3-Hydroxyisobutyryl-Coa Hydrolase Deficiency (HIBCHD)

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OMIM® 57 250620 KEGG 36 H01349 MeSH 44 D000592 ICD10 via Orphanet 33 E71.1 UMLS via Orphanet 71 C0342738

Orphanet 58 ORPHA88639 MedGen 41 C0342738 SNOMED-CT via HPO 68 127324008 128602000 128613002 17450006 204878001 205043005 22066006 224958001 22811006 246545002 248200007 249497008 250067008 258211005 28055006 300359004 313307000 32003007 32566006 35912001 36440009 398151007 398152000 398206004 398302004 409623005 422400008 432788009 5102002 53888004 563001 59455009 609225004 74877002 78164000 81308009 84757009 86299006 86854008 91175000 more UMLS 70 C0342738

GARD : ²⁰ 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 acid valine. 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 dystonia and organic acidemia, and has symptoms including seizures, ataxia and myoclonus. 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. Related phenotypes are vomiting and motor delay

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) (Updated 05-Apr-2021)

KEGG : ³⁶ Methacrylic aciduria is a very rare cerebral organic aciduria caused by 3-Hydroxy-isobutyryl-CoA hydrolase (HIBCH) mutations. HIBCH is a mitochondrial enzyme of valine catabolism. Patients demonstrated delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during the first stages of life.

UniProtKB/Swiss-Prot : ⁷² 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 (Updated 05-Apr-2021)

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.