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Alvarez, Ronilyn A.

Class Code: 14


February 22, 2016


1. Alkaptonuria (black urine disease, black bone disease, or alcaptonuria) is a rare inherited
genetic disorder in which the body cannot process the amino acids phenylalanine and
tyrosine, which occur in protein. It is caused by a mutation in the HGD gene for the
enzyme homogentisate 1,2-dioxygenase (EC; if a person inherits abnormal
copies from each parent (it is a recessive condition) the body accumulates an intermediate
substance called homogentisic acid in the blood and tissues. Homogentisic acid and its
oxidated form alkapton are excreted in the urine, giving it an unusually dark color. The
accumulating homogentisic acid causes damage to cartilage (ochronosis, leading to
osteoarthritis) and heart valves as well as precipitating as kidney stones and stones in
other organs. Symptoms usually develop in people over thirty years old, although the dark
discoloration of the urine is present from birth.
2. Methylmalonic acidemia (MMA), also called methylmalonic aciduria, first characterized by
Oberholzer et al. in 1967, is an autosomal recessive metabolic disorder. It is a classical
type of organic acidemia. The result of this condition is the inability to properly digest
specific fats and proteins, which in turn leads to a buildup of a toxic level of methylmalonic
acid in the blood.
3. Maple syrup urine disease (MSUD), also called branched-chain ketoaciduria, is an
autosomal recessive metabolic disorder affecting branched-chain amino acids. It is one
type of organic acidemia. The condition gets its name from the distinctive sweet odor of
affected infants' urine, particularly prior to diagnosis, and during times of acute illness.
4. Classical homocystinuria, also known as cystathionine beta synthase deficiency or CBS
deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often
involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which
means a child needs to inherit a copy of the defective gene from both parents to be
5. Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the
body cannot effectively break down the amino acid tyrosine. Symptoms include liver and
kidney disturbances and mental retardation. Untreated, tyrosinemia can be fatal. Most
inborn forms of tyrosinemia produce hypertyrosinemia (high levels of tyrosine).
6. Trimethylaminuria (TMAU), as defined by the KIM consortium of endocrinology disorders as
fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a
defect in the normal production of an enzyme named flavin-containing monooxygenase 3
(FMO3). When FMO3 is not working correctly or if not enough enzyme is produced, the
body loses the ability to properly convert trimethylamine (TMA) from precursor compounds
in food digestion into trimethylamine oxide (TMAO), through a process called N-

oxygenation. Trimethylamine then builds up and is released in the person's sweat, urine,
and breath, giving off a strong fishy odor or strong body odor. A variant of TMAU
(secondary TMAU or TMAU2) exists where there is no genetic cause, yet excessive TMA is
secreted, possibly due to intestinal dysbiosis, altered metabolism, or hormonal reasons.
7. Hartnup disease (also known as "pellagra-like dermatosis" and "Hartnup disorder") is an
autosomal recessive metabolic disorder affecting the absorption of nonpolar amino acids
(particularly tryptophan that can be, in turn, converted into serotonin, melatonin, and
niacin). Niacin is a precursor to nicotinamide, a necessary component of NAD+.:541 The
causative gene, SLC6A19, is located on chromosome 5.
8. Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not
released from proteins in the diet during digestion or from normal protein turnover in the
cell. This situation results in biotin deficiency. Biotin, also called vitamin B7, is an
important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and
proteins. Biotin deficiency can result in behavioral disorders, lack of coordination, learning
disabilities and seizures. Biotin supplementation can alleviate and sometimes totally arrest
such symptoms.
9. Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common
urea cycle disorder in humans. Ornithine transcarbamylase, the defective enzyme in this
disorder is the final enzyme in the proximal portion of the urea cycle, responsible for
converting carbamoyl phosphate and ornithine into citrulline. OTC deficiency is inherited in
an X-linked recessive manner, meaning males are more commonly affected than females.
In severely affected individuals, ammonia concentrations increase rapidly causing ataxia,
lethargy and death without rapid intervention. OTC deficiency is diagnosed using a
combination of clinical findings and biochemical testing, while confirmation is often done
using molecular genetics techniques. Once an individual has been diagnosed, the
treatment goal is to avoid precipitating episodes that can cause an increased ammonia
concentration. The most common treatment combines a low protein diet with nitrogen
scavenging agents. Liver transplant is considered curative for this disease. Experimental
trials of gene therapy resulted in the death of one participant and have been discontinued.
10.Carbamoyl phosphate synthetase I deficiency (CPS I deficiency) is an autosomal recessive
metabolic disorder that causes ammonia to accumulate in the blood due to a lack of the
enzyme carbamoyl phosphate synthetase I. Ammonia, which is formed when proteins are
broken down in the body, is toxic if the levels become too high. The nervous system is
especially sensitive to the effects of excess ammonia.
11.Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and
other toxic substances to accumulate in the blood. Since the substances also accumulate
in the urine, the disorder can also be called citrullinuria. Two forms of citrullinemia have
been described, both having different signs and symptoms, and are caused by mutations
in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle

disorders. The urea cycle is a sequence of chemical reactions taking place in the liver.
These reactions process excess nitrogen, generated when protein is used for energy by
the body, to make urea, which is excreted by the kidneys.
12.Argininemia, also called arginase deficiency, is an autosomal recessive urea cycle disorder
where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in
the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic
if levels become too high. The nervous system is especially sensitive to the effects of
excess ammonia.
13.Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized
by an abnormally high level of homocysteine in the blood, conventionally described as
above 15 mol/L. As a consequence of the biochemical reactions in which homocysteine is
involved, deficiencies of vitamin B6, folic acid (vitamin B9), and vitamin B12 can lead to
high homocysteine levels. Hyperhomocysteinemia is typically managed with vitamin B6,
vitamin B9 and vitamin B12 supplementation. Taurine supplementation also has been
found to reduce homocysteine levels.
14.Hypermethioninemia is an excess of the amino acid methionine, in the blood. This
condition can occur when methionine is not broken down properly in the body.
15.Hyperlysinemia is an autosomal recessive metabolic disorder characterized by an
abnormal increase of lysine in the blood, but appears to be benign. It is caused by
mutations in AASS, which encodes -aminoadipic semialdehyde synthase. Hyperlysinemia
is associated with ectopia lentis (a displacement or malposition of the eye's crystalline
lens) in humans.
16.Glycine encephalopathy (also known as non-ketotic hyperglycinemia or NKH) is a rare
autosomal recessive disorder of glycine metabolism. After phenylketonuria, glycine
encephalopathy is the second most common disorder of amino acid metabolism. The
disease is caused by defects in the glycine cleavage system, an enzyme responsible for
glycine catabolism. There are several forms of the disease, with varying severity of
symptoms and time of onset. The symptoms are exclusively neurological in nature, and
clinically this disorder is characterized by abnormally high levels of the amino acid glycine
in bodily fluids and tissues, especially the cerebral spinal fluid.
17.Propionic acidemia, also known as propionic aciduria, propionyl-CoA carboxylase
deficiency and ketotic glycinemia, is an autosomal recessive metabolic disorder, classified
as a branched-chain organic acidemia. The disorder presents in the early neonatal period
with progressive encephalopathy. Death can occur quickly, due to secondary
hyperammonemia, infection, cardiomyopathy, or basal ganglial stroke. Propionic acidemia
is a rare disorder that is inherited from both parents. Being autosomal recessive, neither
parent shows symptoms, but both carry a defective gene responsible for this disease. It
takes two faulty genes to cause PA, so there is a 1 in 4 chance for these parents to have a
child with PA.

18.Hyperprolinemia, also referred to as prolinemia or prolinuria, is a condition which occurs

when the amino acid proline is not broken down properly by the enzymes proline oxidase
or pyrroline-5-carboxylate dehydrogenase, causing a buildup of proline in the body.
Reference: Menkes, J. (1971). Disorders of amino acid metabolism--1971. California Medicine,
115(4), 14. Retrieved


Wikipedia,. (2016). Congenital disorders of amino acid metabolism. Retrieved 21 February 2016,