HIBCHD
MCID: 3HY010
MIFTS: 26
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3-Hydroxyisobutyryl-Coa Hydrolase Deficiency (HIBCHD)
Categories:
Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency:
Characteristics:Orphanet epidemiological data:59
neurodegeneration due to 3-hydroxyisobutyryl-coa hydrolase deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); HPO:32
3-hydroxyisobutyryl-coa hydrolase deficiency:
Onset and clinical course infantile onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases
ICD10:
34
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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 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. 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. |
Diseases related to 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:250620Human phenotypes related to 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency:59 32 (show all 18)
UMLS symptoms related to 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency:seizures, ataxia, myoclonus, persistent vomiting |
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MalaCards organs/tissues related to 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency:41
Brain,
Testes
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Articles related to 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency:
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UniProtKB/Swiss-Prot genetic disease variations for 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency:75
ClinVar genetic disease variations for 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency:6 (show all 24)
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Search
GEO
for disease gene expression data for 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency.
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Pathways related to 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency according to KEGG:37
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