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Qué (quién) es 3-Methylcrotonyl-CoA carboxylase deficiency - definición
3-Methylcrotonyl-CoA carboxylase deficiency
HUMAN DISEASE
BMCC deficiency; Deficiency of methylcrotonoyl-CoA carboxylase; 3-MCC; MCC deficiency; Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonylglycinuria; 3 methylcrotonic aciduria; 3-methylcrotonyl-CoA carboxylase deficiency; 3-methyl crotonyl-coa carboxylase deficiency; 3-Methylcrotonylglycinuria type 1; 3MCC deficiency; Beta-methyl crotonyl carboxylase deficiency; 3-Methylcrotonylglycinuria
3-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria or BMCC deficiency is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down proteins containing the amino acid leucine.
Methylcrotonyl-CoA carboxylase
CLASS OF ENZYMES
Methylcrotonoyl-CoA carboxylase; MCCC2; MCCC1; 3-methylcrotonyl-CoA carboxylase; EC 6.4.1.4; 3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming); MC-CoA carboxylase
Methylcrotonyl CoA carboxylase (, MCC) (3-methylcrotonyl CoA carboxylase, methylcrotonoyl-CoA carboxylase) is a biotin-requiring enzyme located in the mitochondria. MCC uses bicarbonate as a carboxyl group source to catalyze the carboxylation of a carbon adjacent to a carbonyl group performing the fourth step in processing leucine, an essential amino acid.
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
MEDICAL CONDITION
HMG-CoA lyase deficiency; Hydroxymethylglutaryl lyase deficiency; Hydroxymethylglutaric aciduria; Hydroxymethylglutaryl-CoA lyase deficiency; 3-hydroxy 3-methyl glutaryl-coa lyase deficiency; HMG lyase deficiency; HMG CoA lyase deficiency; Hydroxymethylglutaricaciduria; 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is an uncommon inherited disorder in which the body cannot properly process the amino acid leucine. Additionally, the disorder prevents the body from making ketones, which are used for energy during fasting.
