3-Hydroxyisobutyryl-Coa Hydrolase Deficiency (HIBCHD)

3-Hydroxyisobutyryl-Coa Hydrolase Deficiency(来自ICD-11)

别称:

Valine Metabolic Defect

Methacrylic Aciduria

Hibch Deficiency

Beta-Hydroxyisobutyryl Coa Deacylase Deficiency

3-Hydroxyisobutryl-Coa Hydrolase Deficiency

Neurodegeneration Due to 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency

Beta-Hydroxyisobutyryl-Coa Deacylase Deficiency

Methacrylic Acid Toxicity

Hibchd

Deficiency of Beta-Hydroxyisobutyryl Coa Deacylase

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

3-Hydroxyisobutyryl-Coa Hydrolase Deficiency, also known as valine metabolic defect, is related to dystonia and congenital hemidysplasia with ichthyosiform erythroderma and limb defects, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency is HIBCH (3-Hydroxyisobutyryl-CoA Hydrolase). Affiliated tissues include brain, and related phenotypes are hypotonia and vomiting

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