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Biological: Behavioural genetics · Evolutionary psychology · Neuroanatomy · Neurochemistry · Neuroendocrinology · Neuroscience · Psychoneuroimmunology · Physiological Psychology · Psychopharmacology (Index, Outline)
Methylmalonic acid.svg|
ICD-10 | E711 | |
---|---|---|
ICD-9 | 270.3 | |
OMIM | [1] | |
DiseasesDB | 29509 29510 | |
MedlinePlus | 001162 | |
eMedicine | neuro/576 | |
MeSH | {{{MeshNumber}}} |
Methylmalonic acidemia (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia.
Methylmalonic acidemia does not always result in death, if it is diagnosed at an early age.
Causes[]
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. Methylmalonic acidemia is a disorder of amino acid metabolism, involving a defect in the conversion of methylmalonyl-coenzyme A (CoA) to succinyl-CoA by methylmalonyl-CoA mutase.
Types[]
- OMIM 251100 - cblA type
- OMIM 251110 - cblB type
- OMIM 277400 - cblC type
- OMIM 277410 - cblD type
- OMIM 277380 - cblF type
- OMIM 606169 - cblH type
- OMIM 251000 - mut type
Cobalmin (vitamin B12) is also needed for the conversion of methylmalonyl-CoA to Succinyl-CoA. Mutations leading to defects in cobalmin or in its transport frequently result in the development of acidemia. The numerous pat
See also[]
- Isovaleric acidemia
- Propionic acidemia
- Methylmalonic acid
References[]
- Organic Acidemia Association
- Overview of condition at NLM Genetics Home Reference
- fr:Acidémie méthylmalonique
amino-acids Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia - Maple syrup urine disease - Propionic acidemia - Methylmalonic acidemia - Isovaleric acidemia - Primary carnitine deficiency - Cystinuria - Cystinosis - Hartnup disease - Homocystinuria - Citrullinemia - Hyperammonemia - Glutaric acidemia type 1
carbohydrates Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V), Fructose intolerance, Galactosemia
Lipid storage disorders Gangliosidosis - 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 - Wolman disease - Cholesteryl ester storage disease
List of fatty acid metabolism disorders - Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
mineral metabolism Disorders of calcium metabolism - Hypophosphatemia - Hypophosphatasia - Wilson's disease - Menkes disease - Hypermagnesemia - Hypomagnesemia - Hypercalcaemia - Hypocalcaemia
fluid, electrolyte and acid-base balance Electrolyte disturbance - Hypernatremia - Hyponatremia - Respiratory acidosis - Metabolic acidosis - Lactic acidosis - Hypervolemia - Hypokalemia - Hyperkalemia - Mixed disorder of acid-base balance - Hyperchloremia - Hypochloremia - Dehydration
porphyrin and bilirubin Acatalasia - Gilbert's syndrome - Crigler-Najjar syndrome - Dubin-Johnson syndrome - Rotor syndrome - Porphyria (Acute intermittent porphyria, Gunther's disease, Porphyria cutanea tarda, Erythropoietic protoporphyria, Hepatoerythropoietic porphyria, Hereditary coproporphyria, Variegate porphyria)
glycosaminoglycan Mucopolysaccharidosis - Hurler syndrome - Hunter syndrome - Sanfilippo syndrome - Morquio syndrome
glycoprotein I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
other Alpha 1-antitrypsin deficiency - Cystic fibrosis - Familial Mediterranean fever - Lesch-Nyhan syndrome
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