3-Methylcrotonyl-CoA carboxylase deficiency

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3-Methylcrotonyl-CoA carboxylase deficiency Classification and external resources
OMIM	210200
DiseasesDB	32207

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Guidelines / Policies / Govt
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3-Methylcrotonyl-CoA carboxylase deficiency (3MCC deficiency), also known as 3-Methylcrotonylglycinuria type 1 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. This condition affects an estimated 1 in 50,000 individuals worldwide.

Presentation

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.

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.

Genetics

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. 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 byproducts of leucine processing build up to harmful levels, damaging the brain and nervous system. This condition is inherited in an autosomal recessive pattern.

Screening

It is one of the 29 conditions currently recommended for newborn screening by the American College of Medical Genetics.

References

This article incorporates public domain text from The U.S. National Library of Medicine

External links

• Overview of condition at NLM Genetics Home Reference
• SaveBabies

v • d • e WikiDoc Research Resources for 3-Methylcrotonyl-CoA carboxylase deficiency
Articles on 3-Methylcrotonyl-CoA carboxylase deficiency	Most recent articles on 3-Methylcrotonyl-CoA carboxylase deficiency • Most cited articles on 3-Methylcrotonyl-CoA carboxylase deficiency • Review articles on 3-Methylcrotonyl-CoA carboxylase deficiency • Articles on 3-Methylcrotonyl-CoA carboxylase deficiency in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on 3-Methylcrotonyl-CoA carboxylase deficiency	Powerpoint slides on 3-Methylcrotonyl-CoA carboxylase deficiency • Images of 3-Methylcrotonyl-CoA carboxylase deficiency • Photos of 3-Methylcrotonyl-CoA carboxylase deficiency • Podcasts & MP3s on 3-Methylcrotonyl-CoA carboxylase deficiency • Videos on 3-Methylcrotonyl-CoA carboxylase deficiency
Evidence Based Medicine Regarding 3-Methylcrotonyl-CoA carboxylase deficiency	Cochrane Collaboration on 3-Methylcrotonyl-CoA carboxylase deficiency • Bandolier on 3-Methylcrotonyl-CoA carboxylase deficiency • TRIP on 3-Methylcrotonyl-CoA carboxylase deficiency
Cost Effectiveness of 3-Methylcrotonyl-CoA carboxylase deficiency	Cost Effectiveness of 3-Methylcrotonyl-CoA carboxylase deficiency
Clinical Trials Involving 3-Methylcrotonyl-CoA carboxylase deficiency	Ongoing Trials on 3-Methylcrotonyl-CoA carboxylase deficiency at Clinical Trials.gov • Trial results on 3-Methylcrotonyl-CoA carboxylase deficiency • Clinical Trials on 3-Methylcrotonyl-CoA carboxylase deficiency at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding 3-Methylcrotonyl-CoA carboxylase deficiency	US National Guidelines Clearinghouse on 3-Methylcrotonyl-CoA carboxylase deficiency • NICE Guidance on 3-Methylcrotonyl-CoA carboxylase deficiency • NHS PRODIGY Guidance • FDA on 3-Methylcrotonyl-CoA carboxylase deficiency • CDC on 3-Methylcrotonyl-CoA carboxylase deficiency
Textbook Information on 3-Methylcrotonyl-CoA carboxylase deficiency	Books and Textbook Information on 3-Methylcrotonyl-CoA carboxylase deficiency
Pharmacology Resources on 3-Methylcrotonyl-CoA carboxylase deficiency	Dosing of 3-Methylcrotonyl-CoA carboxylase deficiency • Drug interactions with 3-Methylcrotonyl-CoA carboxylase deficiency • Side effects of 3-Methylcrotonyl-CoA carboxylase deficiency • Allergic reactions to 3-Methylcrotonyl-CoA carboxylase deficiency • Overdose information on 3-Methylcrotonyl-CoA carboxylase deficiency • Carcinogenicity information on 3-Methylcrotonyl-CoA carboxylase deficiency • 3-Methylcrotonyl-CoA carboxylase deficiency in pregnancy • Pharmacokinetics of 3-Methylcrotonyl-CoA carboxylase deficiency •
Genetics, Pharmacogenomics, and Proteinomics of 3-Methylcrotonyl-CoA carboxylase deficiency	Genetics of 3-Methylcrotonyl-CoA carboxylase deficiency • Pharmacogenomics of 3-Methylcrotonyl-CoA carboxylase deficiency • Proteomics of 3-Methylcrotonyl-CoA carboxylase deficiency
Newstories on 3-Methylcrotonyl-CoA carboxylase deficiency	3-Methylcrotonyl-CoA carboxylase deficiency in the news • Be alerted to news on 3-Methylcrotonyl-CoA carboxylase deficiency • News trends on 3-Methylcrotonyl-CoA carboxylase deficiency
Commentary on 3-Methylcrotonyl-CoA carboxylase deficiency	Blogs on 3-Methylcrotonyl-CoA carboxylase deficiency
Patient Resources on 3-Methylcrotonyl-CoA carboxylase deficiency	Patient resources on 3-Methylcrotonyl-CoA carboxylase deficiency • Discussion groups on 3-Methylcrotonyl-CoA carboxylase deficiency • Patient Handouts on 3-Methylcrotonyl-CoA carboxylase deficiency • Directions to Hospitals Treating 3-Methylcrotonyl-CoA carboxylase deficiency • Risk calculators and risk factors for 3-Methylcrotonyl-CoA carboxylase deficiency
Healthcare Provider Resources on 3-Methylcrotonyl-CoA carboxylase deficiency	Symptoms of 3-Methylcrotonyl-CoA carboxylase deficiency • Causes & Risk Factors for 3-Methylcrotonyl-CoA carboxylase deficiency • Diagnostic studies for 3-Methylcrotonyl-CoA carboxylase deficiency • Treatment of 3-Methylcrotonyl-CoA carboxylase deficiency
Continuing Medical Education (CME) Programs on 3-Methylcrotonyl-CoA carboxylase deficiency	CME Programs on 3-Methylcrotonyl-CoA carboxylase deficiency
International Resources on 3-Methylcrotonyl-CoA carboxylase deficiency	3-Methylcrotonyl-CoA carboxylase deficiency en Espanol • 3-Methylcrotonyl-CoA carboxylase deficiency en Francais
Business Resources on 3-Methylcrotonyl-CoA carboxylase deficiency	3-Methylcrotonyl-CoA carboxylase deficiency in the Marketplace • Patents on 3-Methylcrotonyl-CoA carboxylase deficiency
Informatics Resources on 3-Methylcrotonyl-CoA carboxylase deficiency	List of terms related to 3-Methylcrotonyl-CoA carboxylase deficiency

v • d • e Metabolic pathology / Inborn error of metabolism (E70-90, 270-279)
Amino acid	Aromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
Carbohydrate	Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storage	Sphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipid	Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
Mineral	Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte and acid-base balance	Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Purine and pyrimidine	Hyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
Porphyrin	Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
Bilirubin	Unconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
Glycosaminoglycan	Mucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
Glycoprotein	Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
Other	Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia