Now, let’s review 

fatty acid metabolism real quick. Normally, the body's main source of energy

is the glucose we get from food. When glucose is running low, like with prolonged fasting or
exercise, the body is able to obtain energy from stored fats.
The simplest form of fats are fatty acids, which are grouped by length into short, medium, long,
and very long chain fatty acids. Short and medium chain fatty acids are primarily obtained from
the diet, while long and very long chain fatty acids can be synthesized from acetyl-CoA by the
liver and fat cells.
Now, keep in mind that acetyl-CoA is usually found in the mitochondrial matrix, whereas the
enzymes required for fatty acid synthesis are all in the cytoplasm. For acetyl-CoA to cross the
mitochondrial membranes and get to the cytoplasm, it first needs to combine with oxaloacetate to
form citrate. Once in the cytoplasm, an enzyme called citrate lyase leaves citrate back into
acetyl-CoA and oxaloacetate. This whole process is called the citrate shuttle.
Now, when the body needs some extra energy, fatty acids can be broken down by the acyl-CoA
dehydrogenases into smaller chain fatty acids to ultimately obtain acetyl-CoA. This process is
called fatty acid or beta oxidation. To do this, fatty acids need to leave the fat cells, and enter the
bloodstream, where they bind to a protein called albumin.
Albumin carries the fatty acids to the heart, skeletal muscle, and liver cells, which is where fatty
acid oxidation mainly takes place. Once inside these cells, a cytosolic enzyme called fatty acyl-
CoA synthetase adds a coenzyme A or CoA molecule to the end of the fatty acid, turning it into a
fatty acyl-CoA.
Now, oxidation of very long chain fatty acyl-CoAs takes place in the peroxisomes, and that’s
another topic; on the other hand, oxidation of short, medium, and long chain fatty acyl-CoAs
takes place in the mitochondrial matrix. What’s important here is that short and medium chain
fatty acyl-coAs can freely cross the mitochondrial membranes, while the long chain fatty acyl-
CoAs can’t.
To get around this problem, an enzyme within the outer mitochondrial membrane called carnitine
palmitoyltransferase 1 or CPT1 replaces the CoA with a carnitine, making fatty acyl-carnitine
and a free CoA, both of which can easily cross the inner mitochondrial membrane. Then, along
the inner mitochondrial membrane, another enzyme called carnitine palmitoyltransferase 2 or
CPT2 substitutes carnitine and CoA back, therefore regenerating fatty acyl-CoA and free
carnitine within the mitochondrial matrix. This whole process is called the carnitine shuttle, and
it’s very high yield.
With prolonged starvation, fatty acid oxidation ramps up, and the excess acetyl-CoA is sent to
the liver to get converted into ketone bodies. These ketone bodies are then released into the
bloodstream, so that they can reach the rest of the body and be used to obtain energy.
Now, fatty acid metabolism disorders result from a defect of an enzyme involved in obtaining
energy sources like acetyl-CoA and ketone bodies from fatty acids. For your exams, the two
most high yield fatty acid metabolism disorders are systemic carnitine deficiency and medium
chain acyl-CoA dehydrogenase deficiency.
Let’s begin with systemic carnitine deficiency, in which there’s not enough carnitine available to
assist in the carnitine shuttle. Systemic carnitine deficiency can be primary or secondary.
Systemic primary carnitine deficiency, or SPCD for short, is caused by a mutation in the
SLC22A5 gene, which codes for the organic cation transporter protein OCTN2.
For your exams, remember that this is an autosomal recessive disease, meaning that an individual
needs to inherit two copies of the mutated gene, one from each parent, to develop the condition.
Now, OCTN2 is a carnitine transporter that would normally help reabsorb carnitine in kidneys,
as well as transport carnitine inside cells capable of fatty acid oxidation.
As a result, in primary carnitine deficiency, most of the carnitine ends up being excreted in urine,
leading to a carnitine shortage in the body. And even that little carnitine available can’t be
transported inside the cells to be used in the carnitine shuttle. As a result, long chain fatty
acids can’t get into the mitochondria, so fatty acid oxidation is impaired.
Systemic primary carnitine deficiency often first manifests in infants or young children as fatigue
and weakness. In addition, the child may show irritability and feeding difficulties. What’s most
important for your exams is that, during fasting, individuals may experience
hypoketotic hypoglycemia, which is basically an episode of low blood sugar that can’t be
compensated by producing ketone bodies to obtain energy.
And since long chain fatty acids can’t be used up, they end up accumulating in cells; so over
time, affected individuals can develop dilated cardiomyopathy or an enlarged heart, skeletal
hypotonia or decreased muscle tone, and hepatomegaly or an enlarged liver. Finally, some
individuals may develop encephalopathy or brain damage.
On the other hand, secondary carnitine deficiency occurs due to an underlying cause or
condition, which usually manifests later in life, and so it tends to be milder than primary
carnitine deficiency.
A high yield cause is inadequate dietary intake of carnitine, which is mainly found in meat and
animal products like milk. So in a test question, an important clue would be that the individual is
a vegan or undergoing total parenteral nutrition. Another cause is having a gastrointestinal
condition that doesn’t allow proper absorption of nutrients, such as short bowel syndrome. Now,
since carnitine is mainly produced by the liver and kidney cells, individuals with liver or kidney
disease may also develop carnitine deficiency. Finally, one last important cause of secondary
carnitine deficiency is taking certain medications, such as valproate, that may interfere with
carnitine production.

Diagnosis of systemic carnitine deficiency is usually made with newborn screening blood
tests showing hypoglycemia, hypoketonemia or low blood ketones, and most importantly,
very low carnitine levels. At the same time, urine tests will reveal increased carnitine levels
(High levels of free carnitine can indicate that your child has carnitine palmitoyl
transferase type I (CPT-I) deficiency) Diagnosis can be confirmed with genetic
testing to look for the mutated SLC22A5 gene) Diagnosis can be confirmed with genetic
testing to look for the mutated SLC22A5 gene. Treatment of systemic carnitine
deficiency involves carnitine supplementation. For your exams, remember that these
individuals also need to avoid fasting to prevent hypoglycemia.
All right, as a quick recap…Systemic carnitine deficiency can be primary or secondary. Systemic
primary carnitine deficiency is caused by an autosomal recessive mutation in the SLC22A5 gene,
which codes for the carnitine transporter OCTN2. As a result, carnitine is excreted in urine, and
can’t be transported inside cells. This often manifests early as fatigue, weakness, irritability,
feeding difficulty, and hypoketotic hypoglycemia. In addition, long chain fatty acids end up
accumulating in cells, causing dilated cardiomyopathy, skeletal hypotonia, and hepatomegaly,
and some may develop encephalopathy.
On the other hand, secondary carnitine deficiency is caused by inadequate dietary intake,
gastrointestinal conditions, liver or kidney disease, and taking certain medications. This usually
manifests later in life, and is milder. Diagnosis of systemic carnitine deficiency mainly involves
blood tests showing very low carnitine levels. Treatment involves carnitine supplementation.

Without FA’s transportation, Mitochondria doesn’t have any fatty acids to oxidize
at all. So Mt can’t produce acetyl CoA.
And without Acetyl-CoA Krebs cycle doesn’t work- and this results in severe decrease in energy
production.
So tissues are in severe energy depletion state.
And the most sensetive to severe energy deficiency are muscle tissues and liver tissue.
Liver tissue without sufficient amount of ATP molecules can’t produce glucose ( so
energy deficiency disrupts gluconeogenesis) and this results in severe hypoglycemia.
And usually severe hypoglycemic state triggers increase in production of Ketone bodies by liver
tissue – which is a normal compensatory response.
But without acetyl-CoA liver tissue can’t produce ketone bodies so this results in low
ketone bodies level in the blood.
So Mt can’t compensate low blood glucose lvl by production of ketone bodies and this
results in Hypoketotic hypoglycemia which is the signature feature of all b-oxidation defects.

Acetyl-CoA generated by the beta-oxidation pathway enters the mitochondrial

TCA cycle, where is further oxidized to generate NADH and FADH 2. The NADH and
FADH2 produced by both beta oxidation and the TCA cycle are used by the
mitochondrial electron transport chain to produce ATP

Ketogenesis is a catabolic pathway of metabolism. In this process, fatty acids and certain ketogenic
amino acids are broken down to derive energy by alternative means. Ketone bodies are produced in
the ketogenesis process.
Our body continuously produces ketone bodies in low amounts, but in certain cases like starving,
when carbohydrates are present in less amount in diet, ketogenesis is preferred to compensate for
the energy requirements.

Ketone bodies accumulated in an excess amount may lead to a condition called ketoacidosis, which
may be fatal.

What are Ketone Bodies?

Ketone bodies Meaning

Fatty acids undergo 𝛽-oxidation in the liver mitochondria to generate a high amount of energy and
form three compounds, that are known as “ketone bodies”. These ketone bodies are water-soluble
and do not require lipoproteins for transportation across the membrane. Ketone bodies are lipid
molecules having a carbonyl group attached to two -R groups.

Ketone bodies can be transported easily from the liver to different tissues. The ketone bodies β-
hydroxybutyrate and acetoacetate serve as significant sources of energy for outer tissues such as
cardiac, skeletal muscle etc.

The tissues lacking mitochondria fail to utilize ketone bodies. Different reactions occur for
metabolism to take place –

D-β-hydroxybutyrate gets oxidized to acetoacetate by D-β-hydroxybutyrate dehydrogenase in the

extrahepatic tissues. Acetoacetate gets activated to their coenzyme A ester by transfer of CoA from
succinyl-CoA which is an intermediate of the citric acid cycle. It is a reaction which is catalyzed by
the β-ketoacyl-CoA transferase. Then, thiolase cleaves acetoacetyl-CoA to produce acetyl-CoA that
then enters the citric acid cycle. As a result, ketone bodies gets used as fuels in all the tissues.
Exception is the liver, it is devoid of β-ketoacyl-CoA transferase.

Ketogenesis Pathway
Our body normally derives energy from stored carbohydrate by the process of glycogenolysis
(glycogen → glucose) or from non-carbohydrate sources such as lactate by the process of
gluconeogenesis.

Ketogenesis occurs continuously in a healthy individual, but under certain conditions, when there is
an increased concentration of fatty acids or carbohydrate reserves are decreased, ketogenesis
happens at a higher rate:

 Under low blood glucose level, e.g. during fasting or starvation

 On exhaustion of carbohydrate reserve, e.g. glycogen
 When there is insufficient insulin, e.g. Type-1 diabetes
All the main body parts such as the brain, skeletal muscles, heart, etc. can utilise the energy formed
by ketogenesis.

Insufficient gluconeogenesis results in hypoglycemia and excessive production of ketone bodies

resulting in a fatal condition called ketoacidosis.

The ketogenesis process occurs primarily in the mitochondria of liver cells. Below are the steps in
the process of ketogenesis:

1. Transfer of fatty acids in mitochondria by carnitine palmitoyltransferase CPT-1

2. 𝛽-oxidation of fatty acid to form acetyl CoA
3. Acetoacetyl-CoA formation: 2 acetyl CoA form acetoacetyl CoA. The reaction is catalyzed by
the enzyme thiolase
4. 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthesis: the step is catalyzed by HMG-CoA
synthase
5. Acetoacetate formation: HMG-CoA is broken down to acetoacetate and acetyl-CoA by the
action of HMG-CoA lyase

Acetoacetate thus produced forms other ketone bodies, acetone by decarboxylation and D-3-
hydroxybutyrate by reduction

Acetoacetate and D-3-hydroxybutyrate are used by the body to get energy. These ketone bodies are
circulated out of the liver cell.

In the extrahepatic tissues, the following reactions occur:

 D-3-hydroxybutyrate is converted back to acetoacetate by 𝛽-hydroxybutyrate dehydrogenase

 Acetoacetate is converted back to acetyl-CoA by 𝛽-keto-acyl-CoA transferase
 Acetyl-CoA enters the citric acid cycle (TCA or Kreb’s cycle) and produces 22 ATP molecules
 Acetone is excreted out
Ketogenesis process is regulated by Insulin. Hormones such as glucagon, thyroid hormones,
catecholamines, cortisol increase ketogenesis rate by stimulating the breakdown of free fatty acids.

Significance of Ketogenesis
 Ketogenesis is used to get energy by the brain, heart and skeletal muscles under fasting
condition

Systemic Carnitine Deficiency Guide Questions:

What is the genetic basis for ”systemic carnitine deficiency” (SCD)? Reporter#1
Carnitine deficiency is defined as decreased tissue carnitine concentration that is below
the requirements for normal metabolism. This deficiency is common in newborns and
preterm infants due to their underdeveloped organs. It is characterized by
hypoglycemia, low levels of carnitine in the blood, and high levels of long chain fatty
acids (fat accumulation) in the tissues. Carnitine deficiency may occur due to a primary
or a secondary cause.

Primary carnitine deficiency are inherited disorders based on a defect of a component

directly involved in the maintenance of carnitine homeostasis. Such deficiency is caused
by defects in a membrane transporter (OCTN2) that prevents the uptake and retention
of carnitine by cardiac and skeletal muscles, and the kidneys, causing carnitine to be
excreted. It is an autosomal recessive inherited disorder wherein there is a defect in the
gene SLC22A5, which codes for the membrane transporter OCTN2 that carries
carnitine into the cells. There must be two copies of the mutated gene in each
chromosome for it to occur and it is expressed in early life. Thus, the parents of the
individual must both have primary carnitine deficiency for it to manifest in the offspring.
Primary carnitine deficiency is further classified into systemic and myopathic carnitine
deficiency. Systemic carnitine deficiency occurs when carnitine concentration is
severely reduced in both the affected tissues (heart, skeletal muscle, liver) and in the
blood plasma. While, myopathic carnitine deficiency occurs when the carnitine content
is severely reduced in the skeletal muscle, but is normal in blood plasma and the liver.
Another type of carnitine deficiency is secondary carnitine deficiency. It is the excessive
renal loss of carnitine or acylcarnitine that accompanies inherited or acquired disorders
of metabolic pathways not directly involved in carnitine homeostasis. Such deficiency
occurs primarily as a result of defects in fatty acid oxidation leading to the accumulation
of acylcarnitines that are excreted in urine, decreasing carnitine availability. Defects in
mitochondrial oxidation can be caused by deficiencies in CPT I and CPT II. Mutation in
the CPT1A gene leads to CPT I deficiency. It affects only the liver, where in the inability
to use long chain fatty acids for fuel greatly impairs the tissues’ ability to synthesize
glucose during a fast. This can lead to reduced fatty acid oxidation and ketogenesis,
hypoglycemia, coma, and death. Mutation in the CPT2 gene leads to CPT II deficiency.
It affects primarily cardiac and skeletal muscle, and the liver (in severe cases). It
presents as muscle weakness with myoglobinemia following prolonged exercise. It can
be treated by avoidance of fasting, and adopting a diet high in carbohydrates and low in
fat but supplemented with medium-chain TAG. Acquired secondary carnitine deficiency
may be seen in people with liver diseases, where decreased carnitine synthesis occurs
in the liver. It can also be evident in those subjects taking the antiseizure drug, valproic
acid, which decreases renal absorption. Finally, patients who are undergoing
hemodialysis wherein a significant amount of free carnitine is lost from the circulation.

What is the purpose of the carnitine transport of fatty-acyl CoA?  Reporter#1 

Carnitine plays an essential role for the transfer of long chain fatty acids in the inner
mitochondrial membrane. Long chain fatty acids cannot penetrate the inner mitochondrial
membrane. Carnitine’s primary function is to transfer long chain fatty acids from the cytosol into
the mitochondria for oxidation. Free fatty acids enter the cells and are activated to Coenzyme A
esters using the enzyme fatty acyl-CoA synthetase. Since the inner mitochondrial membrane is
impermeable to Acyl-CoA, it must be converted to acylcarnitine (which is permeable). This
conversion utilizes carnitine and the enzyme Carnitine Palmitoyl-Transferase I (CPT-1).  Once
the acylcarnitine is inside the mitochondria it is converted back to acyl-CoA using the enzyme
Carnitine Palmitoyl-Transferase II (CPS-2). The intramitochondrial fatty acyl-CoA undergoes
beta-oxidation and the carnitine returns to the cystolic compartment so it can be reutilized to
form acylcarnitine again.  Failure of this transport mechanism, due to the abnormalities of CPS1
or CPS2, will block beta-oxidation of fatty acids and impair ketogenesis. Ketone bodies are
synthesized from the acetyl CoA derived from the fatty acids in the liver. This may cause lipid
accumulation in the tissues 

             

What are the differences between “systemic” and “myopathic” carnitine

deficiency?    Reporter#1     

In Systemic Primary Carnitine Deficiency (CDSP), the mutation results to a production

of defective carnitine transporters or OCTN2. Due to the defective transporters,
carnitine is generally lost from the body, and cells aren’t adequately supplied with
carnitine. It should be noted that in CDSP, plasma carnitine levels are below normal and
several tissues are affected. This is because the OCTN2 transports the carnitine
intracellularly, and since it is defective, the carnitine is not absorbed, and are excreted
through the urine or stools. Since carnitine cannot be used to transport long-chain fatty
acids from the cytosol to the mitochondria for beta-oxidation, there would be
accumulation of lipids, especially to the liver. Liver is one of the major sources of
carnitine production, any defect in the carnitine transporters would lead to
hepatomegaly since lipid would accumulate in the liver, as there wouldn’t be any
carnitine to transport them. The accumulation of lipids happen because the oxidation of
lipids is blocked by the deficient carnitine transporters. Hypoglycemia also occurs
because of the limited use of fatty acids as energy source due to the inadequate
carnitine available. This results to an increase in the use of glucose as ATP providers
for gluconeogenesis, leading to a decreased blood glucose level. Another manifestation
is the inability of the patient to produce ketone bodies. Since beta-oxidation is inhibited
by the inadequate carnitine transporters, there won’t be any ketone bodies produced
since there are no acetyl COA available from beta-oxidation. This would result to
reduced production of energy in the muscles, kidneys, heart, and brain since these can
convert ketone bodies into substrates that can enter the Kreb’s cycle. Other diseases
that are manifested due to this disease are cardiomyopathy - the most common form of
presentation of the disease, due to the decreased ATP levels in the heart because of
lack of ketone bodies; encephalopathy - because of hypoketotic hypoglycemia, caused
by the 4 decreased glucose levels due to inadequate ATP production; and skeletal
myopathy - due to decreased lipid oxidation in the muscles. The onset of CDSP is
present from infancy. Since the defect is in the genes of the patient, the patient already
carries the disorder even before birth. The treatment that can be used for CDSP is
carnitine therapy. The most effective mode of therapy is the supplementation of L-
carnitine. It can be done orally or intravenously. The IV supplementation of carnitine is
more readily absorbed by the body compared to the oral supplements since only ¼ is
absorbed through that method. If the patient is not treated, CDSP is fatal, especially for
the children, as it affects multiple organs in our body. On the other hand, in Myopathic
Carnitine Deficiency, is the depletion of carnitine levels in the skeletal and cardiac
muscles only. This is also a congenital disease since it is under primary carnitine
deficiency. In this case, the carnitine plasma levels are normal, but there is a decreased
level of carnitine in the muscles, which is why only the cardiac and skeletal muscles are
the affected area in this disease. It is found out that the cause of this disease is a defect
in muscle carnitine transporters. Manifestations of the disease include fat infiltration in
the muscle, since the carnitine transporters in the muscle lost its function, hence, no
beta-oxidation. There is still production of ketone bodies since only the cardiac and
skeletal muscles aren’t capable of utilizing the carnitine, other tissues can still utilize
their carnitine efficiently. It also doesn’t usually exhibit hepatic and central nervous
system dysfunctions since only the cardiac and skeletal muscles experience myopathy.
Thus, myopathic carnitine deficiency could also lead to cardiomyopathy, as cardiac
muscles are also affected. Myopathic carnitine deficiency is a less severe form of
primary carnitine deficiency compared to systemic carnitine deficiency since it only
affects cardiac and skeletal muscles. However, in myopathic carnitine deficiency,
carnitine therapy is less effective. In a study done by Shapira et al, they studied infants
for six months with carnitine therapy. They found out that an increased dose more
effective for the infants, however, even after six months, only two reached the normal
muscle carnitine content out of the eight that responded favorably to the therapy. They
conclude that a longer time period is needed for carnitine therapy for myopathic
carnitine deficiency, and that there is a positive correlation in L-carnitine
supplementation in these cases, with a recommended dose of 100 mg/kg or more
depending on the situation of the patient. This disorder could also fatal as overtime as it
increased the stress on the cardiac muscle due to the muscle weakness manifested by
the patient. Moreover, the onset of this disorder can be exhibited during infancy or later
on in life, either in adolescence or middle age. The onset depends on the severity of the
disorder. Aside from these manifestations, secondary carnitine deficiency can also lead
to a few manifestations. In disorders of fatty acid oxidation, the excess in lipid in
muscles, heart, and liver may lead to carnitine depletion. This can also lead to cardiac
and skeletal myopathy and hepatomegaly. These disorders may also produce long-
chain acylcarnitines that inhibit carnitine transport in renal cells, and can cause
arrhythmia, causing sudden cardiac death. Another manifestation is encephalopathy
due to decreased availability of ketone bodies due to little to no ketogenesis. It is
associated with hypoglycemia as this is an indication that 5 there is no beta-oxidation
happening in the liver, causing the body to use glucose as the only source of energy.
Premature newborns are also more at risk for carnitine deficiency since they have
underdeveloped renal function, decreasing their reabsorption capabilities. Exogenous
sources of carnitine is the best management for this kind of problem. Valproic acid, a
drug used for treating seizures, may also cause a secondary carnitine deficiency as it
impairs renal tubular reabsorption of carnitine. Disorders in energy metabolism and any
defects in carnitine uptake can be fatal, which is why proper treatment and management
must be given. In other cases, the major effect of carnitine deficiency is muscle
weakness.

What are the outstanding manifestations of patients with SCD?   Reporter#2

What can cause the accumulation of lipids in the liver of patients with SCD? 
Reporter#2   

Free fatty acids travel to the liver to undergo gluconeogenesis yielding glucose and
acetyl CoA through beta- oxidation.  The Krebs cycle produces ATP and CO2 and
ketogenesis produces ketone bodies.  Individuals suffering from SCD accumulate fatty
acids in the liver because they can not oxidize long-chain fatty acids through
gluconeogenesis.

What is the cause of hypoglycemia in patients with SCD?   Reporter#2     

Carnitine deficiency causes defective fatty acid oxidation and utilization for energy
production. When fatty acids cannot be utilized, glucose is consumed without
regeneration via gluconeogenesis, resulting in hypoglycemia.

Gluconeogenesis creates glucose from the catabolism of non-carbohydrates.  One non-

carbohydrate source is lipids.  Long-chained fatty acid lipids must undergo beta-
oxidation in order to create acetyl-coa and ketone bodies used in energy metabolism. 
The long chain fatty-acids must be transferred into the mitochondrial matrix from the
cytosol in order to undergo beta-oxidation.  

Why are patients with SCD unable to produce ketone bodies after 24-hour
fasting?   Reporter#3

Ketogenesis is a catabolic pathway of metabolism. In this process, fatty acids and

certain ketogenic amino acids are broken down to derive energy by alternative means.
Ketone bodies are produced in the ketogenesis process.
Our body continuously produces ketone bodies in low amounts, but in certain cases like
starving, when carbohydrates are present in less amounts in diet, ketogenesis is
preferred to compensate for the energy requirements.
Carnitine is responsible for transferring long-chain fatty acids from the cytosol across
the inner mitochondrial membrane into the mitochondrial matrix.   In systemic carnitine
deficiency there is a defect in carnitine biosynthesis therefore LCFA cannot be
transferred into the mitochondrial matrix.  Since the LCFA cannot be transferred into the
mitochondrial matrix, beta-oxidation cannot occur and this  leads to an increased
accumulation of lipids in the liver because acetyl-coa cannot be produced.  Ketone
bodies are derived mostly from the acetyl-coa formed in the liver but since there is no
beta-oxidation there is also a lack ketone bodies

How can we diagnose such a disorder? What laboratory procedures can be

used?  Reporter#3    

Diagnosis
Plasma carnitine levels are extremely reduced in CDSP. The diagnosis can be
confirmed with molecular genetic testing to identify mutations in the SLC22A5 gene. 
Newborn screening is available to detect low carnitine levels in infants with CDSP.
A specific form of test known as amniotic villus cells analysis can be conducted on
infants in order to diagnose its deficiency. Sometimes it could be important to collect
samples of urine and muscles as well along with blood in order to confirm problems
related to carnitine deficiency.  

What are the treatment modalities for SCD?    Reporter#3

The main treatment for CDSP is L-carnitine supplementation, which is very effective if
started before organ damage occurs. Hypoglycemic episodes associated with carnitine
deficiency are treated with intravenous dextrose infusion or proper feeding and diet.
Maintaining normal carnitine levels through supplementation and preventing
hypoglycemia through frequent feeding and diet can prevent the metabolic, hepatic,
cardiac, and muscular complications of CDSP.
Cardiomyopathy, if present, should be managed and treated by a cardiologist.

The management of PCD involves supplementation of levocarnitine in the form of

intravenous therapy at 100–400 mg/kg/day during life-threatening events and oral
therapy at 100–300 mg/kg/day for chronic cases, prevention of hypoglycemic episodes
[6]

by frequent feeding, avoidance of fasting, and prompt institution of intravenous dextrose

during a febrile illness.