SYMPOSIUM: INBORN ERRORS OF METABOLISM
Acute presentations
of inherited metabolic
disorders: investigation
and initial management*
AAM Morris
JV Leonard
Abstract
Inborn errors of metabolism are individually rare but so many have now
been described that the general paediatrician will encounter one from
time to time. For many, early treatment is important. Unfortunately most
that present acutely do so with non-specific symptoms and signs. It is there-
fore necessary to identify and investigate those at high risk. The most com-
mon problems are neurological (including coma, seizures and stroke-like
episodes), hypoglycaemia, disorders of acid-base regulation, acute liver
disease, rhabdomyolysis, cardiomyopathy and sudden collapse. Treatment
should be started as soon as an inborn error is suspected.
Keywords acute liver failure; ataxia; cardiomyopathy; catabolism; en-
cephalopathy; hyperammonaemia; hypoglycaemia; metabolic acidosis;
respiratory alkalosis; rhabdomyolysis; seizures; stroke-like illness
Introduction
Inborn errors of metabolism are generally rare, although some
disorders are more common in genetically isolated or inbred
populations. Many inherited metabolic conditions are now well
recognised and they may present at almost any age from the
newborn period into adult life. New disorders continue to be
elucidated, particularly involving complex molecules, but the
‘classic’ metabolic disorders more often present acutely. Many of
these disorders are treatable and it is important to recognise the
underlying disorder at the earliest possible stage to prevent
permanent damage. Unfortunately, for most disorders the early
symptoms and signs are not specific so it is necessary to try to
identify those at high risk of having a metabolic disorder.
History
The key to identifying patients at high risk is the history, including
the past history, family history and that of the present illness.
*
Notes: This chapter is a short introduction and cannot cover all situ-
ations. If in doubt, consult your local specialist metabolic centre. Detailed
and free instructions on the management of acute illness in specific
inborn errors of metabolism can be found on the British Inherited Meta-
bolic Disease Group Website (BIMDG) http://www.bimdg.org.uk/.
AAM Morris PHD FRCPCH is a Consultant in Paediatric Metabolic Medicine
at the Manchester Centre for Genomic Medicine, St Mary’s Hospital,
Manchester, UK. Conflict of interest: none
J V Leonard PHD FRCP FRCPCH is a Former Professor of Paediatric Metabolic
Disease at UCL Institute of Child Health, London, UK. Conflict of
interest: none
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Past history
After resuscitation it is important to inquire about any previous
problems, such as developmental delay, episodic vomiting
and episodes of drowsiness, particularly on waking. Patients
presenting with a severe acute encephalopathy may have had
previous episodes, commonly much milder, precipitated by
intercurrent infections or fasting. The results of newborn
screening should be sought, particularly in countries that test for
multiple metabolic disorders.
Family history
Similar illnesses or unexplained deaths in siblings must be fol-
lowed up. More distant relatives are particularly relevant in
consanguineous pedigrees or for X-linked disorders. Parental
consanguinity increases the risk of autosomal recessive disorders
but many patients with inborn errors are born into non-
consanguineous families.
Modes of presentation
Although inborn errors may present in many different ways
and at almost any age, acute presentations fall into six main
categories: (1) neurological presentations including acute en-
cephalopathy, seizures, stroke-like illness and acute ataxia (2)
hypoglycaemia, (3) disorders of acid-base regulation, (4) acute
liver disease, (5) rhabdomyolysis, (6) cardiomyopathy and (7)
cardiac arrhythmias and sudden death. Metabolic disorders may
also present at or soon after birth with a number of different
problems that include ascites/hydrops, dysmorphic syndromes,
seizures and severe hypotonia. Lists of the causes of these
problems can be found in Leonard and Morris (2006).
Neurological presentations
Acute encephalopathy: this is a common presentation of inborn
errors but there are also many non-metabolic causes of such an
illness. Typically there is a gradual onset of symptoms, unless the
patient has a convulsion. The early symptoms are often drows-
iness, lethargy, altered behaviour and unsteady gait. These
symptoms may fluctuate and, in mild cases, patients may recover
spontaneously. In severe cases, patients deteriorate, often
somewhat unexpectedly, becoming comatose. Treatment is ur-
gent and basic metabolic investigations should always be done in
any patient with an undiagnosed encephalopathy. Encephalop-
athy with fever is often attributed to ‘encephalitis’ when it is
really caused by metabolic decompensation precipitated by an
infection. The metabolic causes of encephalopathy are summar-
ised in Table 1, with relevant investigations.
Seizures and Stroke-like episodes: the metabolic disorders that
most commonly present with seizures or stroke-like episodes are
listed in Tables 2 and 3 with appropriate investigations. The list
is not exhaustive as seizures are a late feature in many metabolic
disorders.
Investigation of the CSF is often useful but, if this is done,
ensure that samples are collected correctly for all likely possi-
bilities, to avoid the need for a repeat lumbar puncture.
Acute ataxia: occasionally patients will present with an episodic
ataxia. These patients should be screened for maple syrup urine
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 SYMPOSIUM: INBORN ERRORS OF METABOLISM

Reference values are less than 50 mmol/l but any difficulty with
Causes of acute metabolic encephalopathy the venepuncture, including a child struggling or a haemolysed
Causes Investigations sample, may increase the plasma ammonia concentration.
Values more than 100 mmol/l suggest an inborn error although in
C Hypoglycaemia C Blood gases the newborn the threshold is usually taken to be 200 mmol/l.
C Hyperammonaemia C Blood glucose However it must be emphasised that the interpretation of plasma
C Disorders of fatty acid oxidation C Blood lactate ammonia concentrations requires careful assessment of the
C Amino acids disorders including C Plasma electrolytes conditions under which the blood was collected as well as the
maple syrup urine disease & anion gap effect of any treatment, such as intravenous glucose. The meta-
C Organic acidaemias and biotinidase C Plasma ammonia bolic causes of hyperammonaemia and investigations are listed
deficiency C Plasma amino acids in Table 5.
C Mitochondrial respiratory chain C Blood spot acylcarnitines
disorders C Liver function tests Disorders of acid-base regulation
C Plasma biotinidase Metabolic acidosis is a common complication of almost any
C Urine organic acids illness and is usually secondary to tissue hypoxia. However, if
the history suggests previous episodes, there is marked ketosis or
Biotinidase deficiency is very rare but responds dramatically to treatment if
the acidosis persists after tissue perfusion is corrected, the patient
started early.
should be investigated for a metabolic problem. The major cau-
Table 1 ses and the investigations are listed in the Table 6.
Respiratory alkalosis is uncommon in patients who are not
disease, hyperammonaemia, GLUT1 deficiency and organic on a ventilator and they should be investigated for
acidaemias. hyperammonaemia.

Hypoglycaemia Acute liver disease

The blood glucose should be measured in any patient with acute
encephalopathy (including coma) or seizures, except in known
epileptics when they follow the usual course. The metabolic
causes and investigations of hypoglycaemia are listed in Table 4.
Although galactosaemia and tyrosinaemia type 1 may cause
hypoglycaemia it is rarely a presenting feature. If possible,
samples should be taken during hypoglycaemia; as a minimum,
take some plasma and store deep frozen.
There are many causes of acute liver disease and the most
common metabolic ones are listed with investigations in
Table 7. Most of these have parenchymal disease with synthetic
dysfunction including hypoalbuminaemia and clotting abnor-
malities but some will present with a more obstructive picture
with conjugated hyperbilirubinaemia and secondary abnor-
malities caused by the failure of absorption of fat soluble
vitamins.

Hyperammonaemia Rhabdomyolysis
Plasma ammonia should be measured in every undiagnosed This presents with acute muscle pain, dark brown discolouration
encephalopathic patient since early intervention is essential. of the urine (myoglobinuria) and often acute renal failure. The

Metabolic disorders that may present with seizures

Causes Investigations

Hypoglycaemia see Table 4

Hyperammonaemia see Table 5
Maple syrup urine disease Plasma or urine amino acids
Non-ketotic hyperglycinaemia Plasma and CSF aminoacids
GLUT1 deficiency Blood and CSF glucose
Disorders of pyridoxine metabolism Trial of treatment, urine a-aminoadipic semialdehyde, CSF neurotransmitters
Biotinidase deficiency Plasma biotinidase
Organic acidurias (e.g. L-2-hydroxyglutaric) Urine organic acids
Disorders or creatine metabolism Cranial MRS or urine creatine & guanidinoacetate
Molybdenum co-factor deficiency Urine sulphite and sulphocysteine, plasma urate
Menkes disease Plasma copper
Peroxisomal disorders Plasma VLCFA, red cell plasmalogens
Mitochondrial disorders, esp. Alpers syndrome Blood and CSF lactate, mitochondrial studies on muscle, POLG sequencing
Infantile and late infantile NCL [Battens] Electron microscopy of lymphocytes or skin, leukocyte PPT1 or TPP1 assays
Krabbe disease Leukocyte lysosomal enzyme screen

VLCFA ¼ very long chain fatty acids, NCL ¼ Neuronal ceroid lipofuscinosis, PPT1 ¼ palmitoyl protein thioesterase 1, TPP1 ¼ Tripeptidyl peptidase 1.

Table 2

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Please cite this article in press as: Morris AAM, Acute presentations of inherited metabolic disorders: investigation and initial management,
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 SYMPOSIUM: INBORN ERRORS OF METABOLISM

Metabolic disorders that may present with a stroke-like Metabolic causes of hyperammonaemia
illness
Causes Investigations
Causes Investigations
C Urea cycle disorders C Plasma ammonia
Homocystinuria Plasma amino acids and total C Organic acidaemias C Plasma aminoacids
homocysteine C Fatty acid oxidation disorders C Urine organic acids and
C Transport defects e Lysinuric aminoacids
Organic acidaemias Urine organic acids
protein intolerance, C Blood spot acylcarnitines
Ornithine transcarbamylase Plasma ammonia HHH syndrome, C Blood lactate
deficiency Citrin deficiency
C Others: Ornithine aminotransferase
Mitochondrial disorders Mitochondrial DNA mutations
deficiency, Pyruvate carboxylase
(eg MELAS) (blood)
deficiency, etc
Congenital disorders of Serum transferrin isoelectric
For a full list of causes of hyperammonaemia see Table 20.2 in Saudubray et
glycosylation focussing al., 2012.
HHH ¼ Hyperornithinaemia, hyperammonaemia, homocitrullinuria syndrome.
Fabry diseasea Leukocyte a-galactosidase

MELAS ¼ mitochondrial myopathy, encephalopathy, lactic acidosis and stroke- Table 5

like episodes.
a
Very seldom causes strokes in children. Hypertrophic cardiomyopathy is typical of Pompe disease and
disorders of fatty acid oxidation. In mitochondrial disorders and
Table 3 Hurler disease, the findings are variable. Arrhythmias can occur
in the same disorders, even in the absence of cardiomyopathy.
plasma creatine kinase is very high and urine dipsticks give a
Long QT syndrome is particularly common in propionic acid-
false positive result for haemoglobin. Rhabdomyolysis is usually
aemia. Many patients with inborn errors are treated with
precipitated by exercise in adolescents or adults but infection is a
restricted diets and vitamin supplements are an essential
commoner trigger in young children. Metabolic causes and in-
component. Omitting these supplements even for surprisingly
vestigations are listed in Table 8. Non-metabolic causes include
short periods may result in thiamine deficiency with a marked
muscular dystrophies, malignant hyperthermia, inflammation,
cardiomyopathy. Supplements of thiamine may be lifesaving.
trauma and toxins.
Sudden collapse
Cardiomyopathy and arrhythmias
In addition to arrhythmias, metabolic patients may collapse with
Patients with inborn errors may present with a severe cardio-
neurological problems, such as seizures or cerebral oedema and
myopathy and life-threatening arrhythmias. The most important
consequent herniation. Coagulopathy may lead to cerebral or
causes and the appropriate investigations are listed in Table 9.
gastrointestinal bleeds; hyperammonaemia is associated with
pulmonary haemorrhage.
Patients with metabolic acidosis may be able to compensate
Causes of hypoglycaemia with increased respiratory effort for a time but when they can no
Causes Investigations (during longer maintain this, they may collapse. It is important to anticipate
hypoglycaemia) this and, if necessary, start assisted ventilation at an early stage.

C Glycogen storage disease C Plasma urea & electrolytes

C Disorders of gluconeogenesis
C Disorders of fatty acid oxidation
& ketogenesis
C Respiratory chain disorders
involving the liver
C Organic acidaemias
C Ketotic hypoglycaemia
C Endocrine disorders e
hyperinsulinaemia,
adrenal disease,
hypopituitarism
C Liver disease e acute liver failure,
cirrhosis
C Others e any severe illness,
poisoning, etc.
C Plasma insulin, cortisol
(& growth hormone)
C Blood lactate &
3-hydroxybutyrate
C Plasma free fatty acids
C Blood spot acylcarnitines
C Liver function tests
& clotting studies
C Urine organic acids
C Urine toxicology
The major causes of and investigations for metabolic
acidosis
Causes
C Organic acidaemias particularly
methylmalonic and propionic
acidaemia
C Congenital lactic acidoses
C Fructose 1,6-bisphosphatase
deficiency
C Defects of ketolysis
C Pyroglutamic aciduria
C Non-metabolic causes include
diabetes, poisoning, hypoxia
and hypotension
Investigations
C Blood gases, anion gap
C Blood glucose
C Blood lactate
C Blood 3-hydroxybutyrate
C Plasma amino acids
C Blood spot acylcarnitines
C Urine ketone bodies
C Urine organic acids

Table 4 Table 6

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 SYMPOSIUM: INBORN ERRORS OF METABOLISM

Metabolic causes of acute liver disease Metabolic causes of cardiomyopathy

Causes Investigations Causes Investigations

C Galactosaemia (newborn period) C Liver function tests, clotting Disorders of fatty acid oxidation Blood spot acylcarnitines
C Tyrosinaemia type 1 studies
Organic acidaemias Urine organic acids
C Fructosaemia C blood glucose, lactate
C Mitochondrial respiratory chain C blood spot acylcarnitines Mitochondrial respiratory chain Blood lactate
disorders C plasma amino acids disorders including Barth Plasma monolysocardiolipin
C Fatty acid oxidation disorders C serum a-fetoprotein syndrome mtDNA mutations and
C Wilson disease C serum a-1-antitrypsin, mitochondrial studies on
C Urea cycle disorders C plasma copper and muscle
C a-1 antitrypsin deficiency caeruloplasmin
Lysosomal storage disorders Urine GAGs, Blood film for
C Niemann Pick type C C urine organic acids including
including Pompe, Hurler & vacuolated leukocytes, Enzyme
C Disorders of bile acid synthesis succinylacetone
Fabrya diseases studies
C plasma and urine bile acids
Glycogen storage disease type Leukocyte debrancher enzyme,
Further investigations including liver scans and biopsy may be necessary.
IIIb mutation analysis
Table 7 GAGs ¼ glycosaminoglycans.
a
rare in childhood
Sudden death is most commonly a presentation for fatty acid b
rarely a presenting feature.
oxidation disorders. Sadly, newborn screening does not
completely prevent this. The screening program in the UK only Table 9
includes one fatty acid oxidation disorder - medium chain acyl-
organic acid analysis. Blood and bile should also be sent for
CoA dehydrogenase deficiency (MCADD). Moreover, some ba-
acylcarnitine analysis but the results must be interpreted by
bies with MCADD die in the first 48 h, before screening has been
biochemists familiar with post-mortem samples because there
undertaken. Sudden death also occurs in mitochondrial disor-
are a number of pitfalls. Any residual bloodspots from newborn
ders, organic acidaemias and other metabolic conditions but it is
screening should be retrieved, as acylcarnitine analysis of these
seldom the presenting event.
gives much clearer results. It is also now possible to do mutation
If a metabolic disorder is suspected, liver and muscle biopsies
analysis for many disorders including all known fatty acid
should be obtained as soon as possible post-mortem and stored
oxidation defects.
at 70  C. A sterile skin biopsy should be sent for fibroblast
culture and blood should be taken for DNA extraction. An au-
Management
topsy may also give valuable clues, such as increased lipid
droplets in multiple tissues. The management these patients is divided into two sections;
Unfortunately, most biochemical tests are uninterpretable firstly the management of acute illness and secondly the pre-
post-mortem. If urine can be obtained, it should be sent for vention of such illness in the first place. All patients who are at
risk of decompensation should have a plan that starts at home to
try to prevent episodes of decompensation.
Metabolic causes of acute rhabdomyolysis
Acute illness
Causes Investigations After resuscitation and stabilisation it is important to document
the clinical state. For patients with neurological illness, the
Fatty acid oxidation disorders Blood spot acylcarnitines
Glasgow coma score should be noted. Efforts should be made to
especially partial CPT II CPT II assay (in fibroblasts)
identify the factor that has precipitated the illness, such as
deficiency Mutation analysis
infection or fasting. This is not always possible as sometimes
McArdle’s disease and defects Forearm exercise test (in adults) patients become ill for reasons that are not clear.
of glycolysis Mutation analysis The steps that should be taken in the treatment of acute illness
Histochemistry on muscle biopsy are listed in Table 10, together with notes about each stage of the
Enzyme assays on erythrocytes or process.
muscle Some inborn errors will improve markedly if given pharma-
cological doses of cofactor of the defective enzyme. The most
Lipin1 deficiency LPIN1 mutation analysis
important disorders that may respond are listed in the Table 11.
Mitochondrial respiratory Ubiquinone measurement Standard treatment should not be delayed whilst waiting to see if
chain disorders Mitochondrial studies on muscle there is a response as delay may prove disastrous.
biopsy
Special problems: hypoglycaemia: it is important to document
CPT II ¼ carnitine palmitoyltransferase II.
hypoglycaemia correctly. Bedside strip tests only give approximate
Table 8 value despite the apparent accuracy of the meters so that blood

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 SYMPOSIUM: INBORN ERRORS OF METABOLISM
Early management of a suspected inborn of metabolism
C Stop toxic nutrient (protein, galactose, fructose, etc)
C General care as with any patient in intensive care
- Secure airway
- Ensure good tissue perfusion
- Treat hypoglycaemia, infection, seizures, acidosis,
hyperammonaemia
C Give high energy intake (oral or intravenous) Note: usually
glucose is used but fat emulsions may be added to increase
energy intake except in disorders of fatty acid oxidation
C Haemofiltration or haemodialysis
C Insulin infusion (to reduce catabolism)
C Vitamins and specific therapy - see below
Table 10
glucose should always be measured in the laboratory. It should
then be corrected, either orally or intravenously, depending on the
patient’s condition. If corrected with intravenous glucose, give 2
ml/kg of 10% glucose as a bolus followed by an infusion at
approximately the normal glucose utilisation rate (children 4e7
mg/kg/min; adults 2 mg/kg/min). Blood glucose concentrations
should be reviewed after 15e30 min.
Metabolic acidosis: the blood pH must be monitored carefully.
Peripheral perfusion, dehydration and infection should be cor-
rected first. Intravenous sodium bicarbonate should be given if the
blood pH remains less than 7.1; it may be appropriate to give it at a
higher pH if the patient is clearly deteriorating. The situation is not
the same as in diabetic ketoacidosis, as the acidosis will not
respond quickly to other measures. The usual sodium bicarbonate
dose is a half correction: (base deficit  weight (kg)  0.3)/2. It
should be administered slowly, preferably through a central line; if
given peripherally, it must be diluted appropriately. The pH and
Vitamins that may be useful in acute metabolic
presentations
Vitamin Disorder
B12 Methylmalonic acidaemia
Biotin Biotinidase & holocarboxylase synthetase
deficiencies
Biotin-responsive basal ganglia disease
Pyridoxine Homocystinuria,
Pyridoxine dependency
Pyridoxal phosphate Pyridox(am)ine phosphate oxidase deficiency
Thiamine Maple syrup urine disease,
Pyruvate dehydrogenase deficiency
Carnitine Carnitine transporter deficiency
Riboflavin Multiple acyl-CoA dehydrogenase deficiency
Creatine GAMT & AGAT deficiencies
cPMP Molybdenum cofactor type A
GAMT ¼ Guanidinoacetate methyltransferase; AGAT ¼ Arginine:glycine amidi-
notransferase; cPMP ¼ cyclic pyranopterin monophosphate.
Table 11
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plasma electrolytes should be monitored frequently. Haemodial-
ysis should be considered if the plasma sodium starts to rise or if
the acidosis is not controlled quite quickly.
Hyperammonaemia: the treatment of hyperammonaemic en-
cephalopathy is urgent. The same steps are followed as those for
the general patient. The specific management depends on the
severity of hyperammonaemia and whether the diagnosis is
known. For undiagnosed patients, arginine, sodium benzoate,
sodium phenylbutyrate, carnitine and carglumic acid should be
given if these are available. Patients with significant hyper-
ammonaemia must be transferred to a specialist centre as quickly
as possible.
Cerebral oedema: it cannot be stressed too strongly that early
intervention is essential to prevent cerebral oedema as, once
established, it is difficult to reverse. It is commonly the cause of
death in these patients. The management once oedema is
established is standard.
Catabolism: acute decompensation in patients with inborn errors
is often precipitated by infection or fasting, which trigger catab-
olism. Every effort should be made to reverse this. A high energy
intake is given either orally or intravenously. The preferred route
is oral as more calories can be given quickly. If the patient cannot
tolerate oral feeding, glucose should be given intravenously, if
necessary through a central line. If the blood glucose rises, a
continuous insulin infusion can be started at a low rate (0.05 u/
kg/h) and adjusted according to the blood glucose. Nutrition,
including protein should be reintroduced within 48 h, parenter-
ally if necessary. Failure to do so will prolong the catabolic state
and may lead to refeeding syndrome.
Specific treatment: in a few disorders specific management is
vital. In the urea cycle disorders, the use of sodium benzoate,
sodium phenylbutyrate and arginine are essential. In tyrosinae-
mia type 1, nitisinone (NTBC) is needed urgently to prevent se-
vere liver damage. In maple syrup urine disease, encephalopathy
results from the accumulation of branched-chain amino acids
(BCAA). This can be reduced by giving a BCAA-free amino
acid mixture. It is usually given enterally but intravenous prep-
arations are now available at a few specialist centres. Fructose,
sorbitol and sucrose must be avoided in patients with fructo-
saemia and, during acute illness, in those with fructose 1,6
bisphosphatase deficiency.
Full details of the emergency management of inborn errors
that may present acutely are on the British Inherited Disease
Group (BIMDG) web site. These are readily accessible and free.
Haemofiltration: the prognosis is poor for patients with severe
hyperammonaemia, especially for babies with values more
than1000 mmol/l, and this needs to be discussed with the parents
before proceeding with invasive management. If these patients
are to be managed actively, haemofiltration should be started as
soon as possible. Haemofiltration is also needed for severe
acidosis (particularly organic acidaemias) or encephalopathy
(particularly maple syrup urine disease). This intervention can
be life saving and will reduce subsequent handicap.
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 SYMPOSIUM: INBORN ERRORS OF METABOLISM
Prevention of acute decompensation
Many inborn errors are stable for much of the time but still
have episodes of acute illness. Prevention is a very important
part of the management for these patients. The families must
understand the nature of the disorder and be taught to recognise
both precipitating factors and early symptoms. The factors that
commonly precipitate decompensation include fasting and
infection. The earliest symptoms are usually just not feeling well,
anorexia, vomiting, ataxia or, in some conditions, hyperventila-
tion. Each patient is different and it is important to identify the
earliest symptoms and discuss these with the family.
The family should have clear instructions of exactly what to
do and when to make decisions. Almost invariably the mainstay
of the treatment at home is a high carbohydrate drink given
frequently, including during the night. The family should always
carry details of their condition and the acute management. A
laminated sheet A5 has been found to be very acceptable. More
details of the emergency regimens can be found in Dixon and
Leonard (1992).
Anaesthesia and surgery may also cause problems. If the pa-
tient is due to have an elective procedure with an anaesthetic
then this requires careful planning (for more information please
refer to the protocols on the BIMDG website). It is essential to
ensure that a high calorie intake is given throughout and after the
procedure to avoid triggering decompensation.
Conclusions
Inborn errors that present acutely are often treatable and delay
will worsen the outcome. It is important to have a simple strategy
for identifying patients at high risk. Treatment does not need to
wait for a diagnosis but can start at once. Every effort should be
made to prevent or reduce episodes of decompensation. A
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FURTHER READING
Clarke JTR. A clinical guide to inherited metabolic diseases. 3rd ed.
Cambridge: Cambridge University Press, 2006. This textbook classifies
inborn errors according to their clinical presentations.
Saudubray JM, van den Berghe G, Walter JH. Inborn metabolic diseases:
diagnosis and treatment. 5th ed. Heidelberg: Springer, 2012. This
provides detailed information about individual disorders and, in
Chapter 1, comprehensive lists of metabolic causes for various
problems.
Detailed and free instructions on the acute and prospective management
of inborn errors of metabolism and can be found on the British
Inherited Metabolic Disease Group (BIMDG) Website e http://www.
bimdg.org.uk/.
FOR DETAILS ABOUT THE DIAGNOSIS AND MANAGEMENT OF INBORN
ERRORS IN THE PERINATAL PERIOD REFER TO:
Leonard JV, Morris AA. Diagnosis and early management of inborn errors
of metabolism presenting around the time of birth. Acta Paediatr
2006; 95: 6e14.
FOR BACKGROUND TO EMERGENCY REGIMENS:
Dixon MA, Leonard JV. Intercurrent illness in inborn errors of intermediary
metabolism. Arch Dis Child 1992; 62: 1387e91.
Practice points
C A high index of suspicion is needed to identify patients with
inborn errors.
C Early diagnosis and treatment is important to achieve a good
outcome.
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