3-Methylcrotonyl-Coa Carboxylase 1 Deficiency (MCC1D)

3-Methylcrotonyl-Coa Carboxylase 1 Deficiency(来自ICD-11)

别称:

3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Methylcrotonylglycinuria Type I

Mcc1 Deficiency

Mccd Type 1

Mcc1d

3-Methylcrotonoyl-Coa Carboxylase 1 Deficiency

3 Methylcrotonyl-Coa Carboxylase 1 Deficiency

3-Methylcrotonylglycinuria Type I

3-Methylcrotonylglycinuria I

Mcgi

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

3-Methylcrotonyl-Coa Carboxylase 1 Deficiency, also known as 3-methylcrotonyl coa carboxylase 1 deficiency, is related to 3-methylcrotonyl-coa carboxylase deficiency and 3-methylcrotonyl-coa carboxylase 2 deficiency, and has symptoms including lethargy, seizures and vomiting. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency is MCCC1 (Methylcrotonyl-CoA Carboxylase Subunit 1), and among its related pathways/superpathways are Amino acid metabolism and rRNA processing in the mitochondrion. Related phenotypes are global developmental delay and 3-hydroxyisovaleric aciduria

查看原文参与反馈