Log In|Sign Up
EN3-Hydroxyisobutyryl-Coa Hydrolase Deficiency (HIBCHD)
Alias:
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
Favorite
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
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
