MeSH Browser

MeSH Supplementary: 3-methylcrotonyl CoA carboxylase 1 deficiency
Unique ID: C535308
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535308
Entry Term(s): 3 Methylcrotonyl-CoA carboxylase deficiency; 3 Methylcrotonylglycinuria; 3 alpha methylcrotonylglycinuria 1; 3-Mcc Deficiency; 3-Methylcrotonyl-Coa Carboxylase Deficiency; 3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency; 3-Methylcrotonylglycinuria; 3-Methylcrotonylglycinuria I; Bmcc Deficiency; Deficiency of Methylcrotonoyl-Coa Carboxylase; MCC1 Deficiency; MCCD Type 1; Mcc Deficiency; Methylcrotonyl-Coa Carboxylase Deficiency; Methylcrotonylglycinuria Type I; methylcrotonoyl-CoA carboxylase 1 deficiency
Registry Number: 0
Heading Mapped to: Carbon-Carbon Ligases / *deficiency; *Urea Cycle Disorders, Inborn
Frequency: 25
Note: A metabolic disorder caused by decreased activity of the 3-methylcrotonyl CoA carboxylase enzyme due to mutations in the MCCC1 gene. It is characterized primarily by progressive MUSCLE HYPOTONIA and atrophy, urinary extrection of 3-methylcrotonylglycine and of 3-hydroxyisovaleric acid, acute HYPERAMMONEMIA and KETOSIS. Affected infants may also experience a failure to thrive and feeding difficulties, seizures, developmental delay, and intellectual disability. Others may have no symptoms. OMIM: 210200
Date of Entry: 2010/06/25
Revision Date: 2016/09/29

3-methylcrotonyl CoA carboxylase 1 deficiency MeSH Supplementary Concept Data 2023