3-Methylcrotonyl-Coa Carboxylase Deficiency (3MCC)

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

别称:

3-Methylcrotonylglycinuria

Methylcrotonyl-Coa Carboxylase Deficiency

Mcc Deficiency

Bmcc Deficiency

Mccd

3-Methylcrotonyl-Coenzyme a Carboxylase Deficiency

Deficiency of Methylcrotonoyl-Coa Carboxylase

3-Methylcrotonyl Coa Carboxylase 1 Deficiency

3-Methyl Crotonyl-Coa Carboxylase Deficiency

3-Mcc Deficiency

3mcc Deficiency

3-Mcc

3mcc

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

3-Methylcrotonyl-Coa Carboxylase Deficiency, also known as 3-methylcrotonylglycinuria, is related to 3-methylcrotonyl-coa carboxylase 1 deficiency and metabolic acidosis, and has symptoms including muscular hypotonia, muscular atrophy and feeding difficulties. An important gene associated with 3-Methylcrotonyl-Coa Carboxylase Deficiency is MCCC1 (Methylcrotonyl-CoA Carboxylase Subunit 1), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include cingulate cortex and kidney, and related phenotypes are hypotonia and hypoglycemia

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