3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency (HMGCS2D)

Alias:

Mitochondrial Hmg-Coa Synthase Deficiency

Hmg-Coa Synthase-2 Deficiency

Hmgcs2 Deficiency

Hmgcs2d

Mitochondrial 3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency

3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency, Type 2d

3-Hydroxy-3-Methylglutaryl-Coa Synthase 2 Deficiency

3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency

Hmg-Coa Synthase 2 Deficiency

Hmg-Coa Synthase Deficiency

Hmgcs Deficiency

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency, also known as mitochondrial hmg-coa synthase deficiency, is related to 3-hydroxy-3-methylglutaryl-coa synthase deficiency and hypertriglyceridemia 1, and has symptoms including diarrhea and vomiting. An important gene associated with 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency is HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2). Affiliated tissues include liver, and related phenotypes are hepatomegaly and vomiting

Related ID：

MALACARDS：3HY011

OMIM：605911

MESH：D007003