Disease Information for Methyl crotonyl CoA carboxylase deficiency

3 methyl crotonyl CoA carboxylase deficiency causes acidosis and feeding disorders in infancy and Reye like syndrome in older children; findings of 3 methyl crotonylglycine in urine with 3 hydroxyvaleric acid;

very rare------3-methylcrotonyl-CoA carboxylase 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 an amino acid called leucine; Two types by gene locus type 1 at 3q25-q27 and type 2 at 5q12-q13; somnolence, ketosis, acidosis, mild hyperammonemia; Infants with this disorder appear normal at birth but usually develop signs and symptoms during the first year of life or in early childhood; The characteristic features of this condition, which can range from mild to life-threatening, include feeding difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness (lethargy), and weak muscle tone (hypotonia); If untreated, this disorder can lead to delayed development, seizures, and coma; Early detection and lifelong management (following a low-protein diet and using appropriate supplements) may prevent many of these complications; In some cases, people with gene mutations that cause 3-methylcrotonyl-CoA carboxylase deficiency never experience any signs or symptoms of the disorder; Variable severity; The characteristic features of this condition are similar to those of Reye syndrome, a severe disorder that develops in children while they appear to be recovering from viral infections such as chicken pox or flu; Most cases of Reye syndrome are associated with the use of aspirin during these viral infections; How common is 3-methylcrotonyl-CoA carboxylase deficiency?This condition affects an estimated 1 in 50,000 individuals worldwide; What genes are related to 3-methylcrotonyl-CoA carboxylase deficiency?

Mutations in the MCCC1 and MCCC2 genes cause 3-methylcrotonyl-CoA carboxylase deficiency.; The MCCC1 and MCCC2 genes make protein subunits that come together to form an enzyme called 3-methylcrotonyl-CoA carboxylase; This enzyme plays an essential role in breaking down proteins from the diet; Specifically, the enzyme is responsible for the fourth step in processing leucine, an amino acid that is part of many proteins; If a mutation in the MCCC1 or MCCC2 gene reduces or eliminates the activity of 3-methylcrotonyl-CoA carboxylase, the body is unable to process leucine properly; As a result, toxic by-products of leucine processing build up to harmful levels, damaging the brain and nervous system; inherited in an autosomal recessive pattern; synonyms: BMCC deficiency;

Deficiency of methylcrotonoyl-CoA carboxylase;

3-MCC MCCC 1 and MCCC 2;

MCC deficiency; Methylcrotonyl-CoA carboxylase deficiency;

3-methylcrotonylglycinuria

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