3-Hydroxyisobutyryl-Coa Hydrolase Deficiency

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OMIM 57 250620 Orphanet 59 ORPHA88639 UMLS via Orphanet 74 C0342738 ICD10 via Orphanet 34 E71.1 MedGen 42 C0342738

MeSH 44 D000592 KEGG 37 H01349 SNOMED-CT via HPO 69 258211005 128602000 22066006 563001 128613002 246545002 313307000 84757009 91175000 398151007 398152000 224958001 5102002 32566006 127324008 17450006 86299006 248200007 32003007 398206004 398302004 609225004 35912001 205043005 74877002 78164000 more UMLS 73 C0342738

NIH Rare Diseases : ⁵³ HIBCH deficiency is a rare metabolic disease. Early symptoms include poor muscle tone, poor feeding, seizures, and a gradual loss of skills. HIBCH deficiency can cause signs and symptoms similar to another disease, called Leigh syndrome. Diagnosis is aided by blood tests which show high levels of lactic acid, and imaging studies which show changes in the "globi pallidi" structure of the brain. HIBCH deficiency occurs when a person inherits a mutation in both copies of their HIBCH gene. This pattern of inheritance is called "autosomal recessive." The HIBCH gene tells the body how to make an enzyme called 3-hyroxyisobutyryl-CoA hydrolase. When the body does not have enough working enzyme, it can not break down the amino acidvaline. As a result, toxic valine metabolites build up in the body. More specifically, these toxic metabolites build up within the mitochondria of the body's cells. Currently, there is not a cure for HIBCH deficiency. Children with HIBCH deficiency require a multidisciplinary team of doctors who can assess how the deficiency is affecting each body system and recommend appropriate treatments.

MalaCards based summary : 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency, also known as methacrylic aciduria, is related to mitochondrial disorders, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency is HIBCH (3-Hydroxyisobutyryl-CoA Hydrolase), and among its related pathways/superpathways is Valine, leucine and isoleucine degradation. Affiliated tissues include brain and testes, and related phenotypes are muscular hypotonia and agenesis of corpus callosum

OMIM : ⁵⁷ 3-Hydroxyisobutyryl-CoA hydrolase deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Ferdinandusse et al., 2013). (250620)

UniProtKB/Swiss-Prot : ⁷⁵ 3-hydroxyisobutryl-CoA hydrolase deficiency: An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.

Clinical features from OMIM:

250620

Search Clinical Trials , NIH Clinical Center for 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency

Search GEO for disease gene expression data for 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency.