Inborn error of metabolism

Inborn error of metabolism: A heritable disorder of biochemistry. Examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, ...

Inborn error of metabolism
[edit] References
^ Freeze HH (2006). "Genetic defects in the human glycome". Nat. Rev. Genet. 7 (7): 537-51. doi:10.1038/nrg1894. PMID 16755287. 
^ Jensen H, Kjaergaard S, Klie F, Moller HU (2003).

Inborn error of metabolism
Hydrocephalus (NHS Choices)
Excess cerebrospinal fluid in brain due to obstruction of drainage system. 80% of people with spina bifida have hydrocephalus.

inborn error of metabolism - a disorder caused by an inherited defect in an enzyme pathway which affects the body's metabolism.

An inborn error of metabolism associated with an offensive body odour, the smell of rotting fish, due to the excessive excretion of trimethylaminuria (TMA) in urine, sweat, and breath.

Each inborn error of metabolism has its own pattern of long-term effects.
What are the risks to others?

A rare inborn error of metabolism involving the deficiency of an enzyme (aromatic L-amino acid decarboxylase) needed to process aromatic amino acids. This results in a deficiency of neurotransmitters such as dopamine and serotonin.

See also: Inborn error of metabolism
Alternative Names
AKU; Alcaptonuria; Homogentisic acid oxidase deficiency; Alcaptonuric ochronosis ...

See also: Inborn error of metabolism
Overview, Causes, & Risk Factors
A defect in the HGD gene causes alkaptonuria.

The term "inborn error of metabolism" was coined in 1908 by the British physician and pioneer in medical genetics, Sir Archibald Garrod. The 4 inborn errors of metabolism that he considered were albinism, alkaptonuria, pentosuria, and cystinuria.

It is considered an inborn error of metabolism.
Causes, incidence, and risk factors ...

5-alpha-Oxoprolinase deficiency: An inborn error of metabolism where there is insufficient 5-oxoprolinase which generally produces few if any symptoms.

An inborn error of metabolism or some other problem that may cause about 7% of those suffering from body odor to be unable to digest certain foods. These undigested foods, which are often proteins, cause the body to give off unpleasant odors.

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare inborn error of metabolism that is inherited as an autosomal recessive trait.

It is an inborn error of metabolism that is transmitted as an autosomal recessive genetic disorder. MPS-lll has been subdivided into four types: MPS-III Type A, MPS-III Type B, MPS-III Type C, and MPS-III Type D.

inborn error of metabolism in which there is absence of homogentisic acid oxidase and therefore inability to metabolize homogentisic acid. Homogentisic acid in the urine oxidizes and the urine turns black.

PKU is an inborn error of metabolism that can lead to severe communication\ \education, including reading, writing, and basic math\ \motor function\ \personal care, such as bathing, dressing, eating, and toileting\ \social skills\ \thinking skills, ...

It is an inborn error of metabolism, and one of the lysosomal storage diseases. It becomes apparent after the infant is a few months old.

Tyrosinemia is a hereditary inborn error of metabolism that causes severe liver ... The gene defect for Tyrosinemia is an autosomal recessive genetic trait and is ...
Full article ...

Menkes syndrome is an inborn error of metabolism in which cells in the body cannot absorb enough copper.
Causes, incidence, and risk factors: ...

Screening infants for increased levels of amino acids can lead to early diagnosis of an inborn error of metabolism. If the condition is promptly treated, complications such as severe mental retardation may be prevented.
Normal Results
Alanine ...

An inborn error of metabolism
Hole in the bottle nipple may be wrong size, leading to overfeeding
Infection, often accompanied by fever or runny nose ...

Examples of inborn errors of metabolism include galactosemia (babies born with this inborn error of metabolism do not have enough of the enzyme that breaks down the sugar in milk called galactose) and phenylketonuria (this problem is due to ...

Medication during pregnancy, such as radioactive iodine therapy
Maternal autoimmune disease
Too much iodine during pregnancy
Inborn error of metabolism ...

See also: Symptom, Deficiency, Kidney, Pregnancy, Autosomal recessive