Disease Information for Methyl crotonyl CoA carboxylase deficiency

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Clinical Manifestations
Signs & Symptoms
Poor feeding/infant
Development Motor Skills (Milestones) Delayed
Lethargy/torpor
Newborn Poor Sucking response/reflex
Episodic symptoms/events
Disease Progression
Course/Potentially lethal/untreated
Lethal Potential
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Enzyme Assay plasma/tissue/fibroblast abnormal
Neonatal metabolic screening (mass spec) abnormal
Newborn screening tests abnormal (extended)
Abnormal Lab Findings - Increased
URINE 3-Hydroxyisovaleric Acid
Associated Diseases & Rule outs
Rule Outs
Reye's syndrome
Associated Disease & Complications
Death Outcome
Hypoglycemia, infantile
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 15q12
Pathophysiology/Gene Locus 3q25-q27
Pathophysiology/Gene Locus chromosome 3q
Pathophysiology/Gene locus Chromosome 5q
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
Synonyms
Synonym
Methyl crotonyl CoA carboxylase deficiency, Synonym/3-MCC deficiency (MCC Def), Synonym/3-Methylcrotonylglycinuria, Synonym/MCCC1 and MCCC2 types
Definition

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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External Links Related to Methyl crotonyl CoA carboxylase deficiency
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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