" /> 3-hydroxyisobutyryl-coa hydrolase deficiency - CISMeF





Preferred Label : 3-hydroxyisobutyryl-coa hydrolase deficiency;

Symbol : HIBCHD;

CISMeF acronym : HIBCHD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hibch deficiency; Methacrylic acid toxicity; Methacrylic aciduria; Valine metabolic defect; Beta-hydroxyisobutyryl coa deacylase deficiency;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 3-@hydroxyisobutyryl-CoA hydrolase gene (HIBCH, 610690.0001);

Laboratory abnormalities : Increased lactate; Urinary excretion of cysteine and cysteamine conjugates of methacrylic acid; Increased hydroxy-C4-carnitine;

Prefixed ID : #250620;

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02/05/2025


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