3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency (HMGCLD)

Alias:
Hydroxymethylglutaric Aciduria
Hmg-Coa Lyase Deficiency
Deficiency of Hydroxymethylglutaryl-Coa Lyase
3-Hydroxy-3-Methylglutaric Aciduria
Hmgcl Deficiency
Hl Deficiency
Hmgcld
3-Hydroxy-3-Methylglutaryl-Coenzyme a Lyase Deficiency
3-Hydroxy 3-Methyl Glutaryl-Coa Lyase Deficiency
3-Oh 3-Methyl Glutaric Aciduria
Hydroxymethylglutaricaciduria
3-Oh 3-Ch3 Glutaric Aciduria
Hepatic Lipase Deficiency
Hmg Coa Lyase Deficiency
3hmg
Hmg
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency, also known as hydroxymethylglutaric aciduria, is related to 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency and 3-hydroxy-3-methylglutaryl-coa synthase deficiency, and has symptoms including angina pectoris An important gene associated with 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency is HMGCL (3-Hydroxy-3-Methylglutaryl-CoA Lyase). Affiliated tissues include liver and cortex, and related phenotypes are hyperammonemia and metabolic acidosis
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
1-9/1000000
1
4
58

Medical Symptom

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HPO Source Accession
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Gene & Mutation

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Disease Model

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References Literature

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