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Isovaleric acidemia is a rare genetic disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acid leucine. It is closely related to the genetic metabolic disorder Maple syrup urine disease. The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ...
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The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ...
The International Classification of Diseases for Oncology (ICD-O) is a domain specific extension of the International Statistical Classification of Diseases and Related Health Problems for tumor diseases. ...
The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ...
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A genetic disorder, or genetic disease is a disease caused by abnormal expression of one or more genes in a person causing a clinical phenotype. ...
A representation of the 3D structure of myoglobin, showing coloured alpha helices. ...
Leucine is one of the 20 most common amino acids and coded for by DNA. It is isomeric with isoleucine. ...
Maple syrup urine disease (MSUD) is an inherited genetic disorder in which the body is unable to process certain amino acids properly, unmetabolised amino acids are passed in the urine giving it a distinctive maple syrup odour. ...
Symptoms
A characteristic feature of isovaleric acidemia is a distinctive odor of sweaty feet. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals.
In about half of cases, the signs and symptoms of this disorder become apparent within a few days after birth and include poor feeding, vomiting, seizures, and lack of energy that can progress to coma. These medical problems are typically severe and can be life-threatening. In the other half of cases, the signs and symptoms of the disorder appear during childhood and may come and go over time. They are often triggered by an infection or by eating an increased amount of protein-rich foods. Vomiting (or emesis) is the forceful expulsion of the contents of ones stomach through the mouth. ...
This article is about the medical term, epileptic seizure, as distinct from psychogenic non-epileptic seizure. ...
Fatigue is a feeling of excessive tiredness or lethargy, with a desire to rest, perhaps to sleep. ...
This article is in need of attention from an expert on the subject. ...
The urine of newborn can be screened with mass spectrometry for isovaleric acid, allowing for presymptomatic diagnosis. It has been suggested that Mass spectrum be merged into this article or section. ...
Genetics Isovaleric acidemia is estimated to affect at least 1 in 250,000 births in the United States. The condition is inherited in an autosomal recessive pattern, caused by mutations in both copies of the IVD gene. In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...
This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...
The enzyme encoded by IVD, isovaleric acid-CoA dehydrogenase (EC 1.3.99.10), plays an essential role in breaking down proteins from the diet. Specifically, the enzyme is responsible for the third step in processing leucine, an amino acid that is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, a molecule called isovaleric acid and related compounds build up to harmful levels, damaging the brain and nervous system. EC numbers (Enzyme Commission numbers) are a numerical classification scheme for enzymes, based on the chemical reactions they catalyze. ...
References - Budd, M. A. et al. Isovaleric acidemia: clinical feature of a new genetic defect of leucine metabolism. New Eng. J. Med. 277: 321-327, 1967. PMID 4378266
- National Library of Medicine. Genetics Home Reference: Isovaleric acidemia
See also Methylmalonic acidemia (MMA) is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ...
Propionic acidemia is an inherited disorder of inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia. ...
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