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Methylmalonic Acidemia
Methylmalonic acidemia
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Causes
Prevention
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Related in the Kosmos
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Genetic disorder
(11)
Trifunctional protein deficiency
Carbamoyl phosphate synthetase I deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Methionine synthase deficiency
Cystathioninuria
Cystathioninuria
Acatalasia
Acrocephal- opolysyndactyly
6-pyruvoyl- tetrahydropterin synthase deficiency
SCAD deficiency
Arginase deficiency
Sarcosinemia
more...
Rare diseases
(14)
Maple syrup urine disease
Isovaleric acidemia
Newborn screening
Beta-ketothiolase deficiency
Propionic acidemia
Propionic acidemia
Menkes syndrome
Argininosuccinic acidemia
2-Hydroxyglutaric aciduria
Gangliosidoses gm2
Alpha-mannosidosis
Mowat-Wilson syndrome
Hartnup disease
Metachromatic leukodystrophy
Sarcosinemia
more...
Inborn errors of metabolism
(106)
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Carnitine uptake defect
Citrullinemia
D-Glyceric acidemia
D-Glyceric acidemia
Galactosemia
Glutaric acidemia type I
Holocarboxylase synthetase deficiency
Isobutyryl-CoA dehydrogenase deficiency
LCHAD
McArdles syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Metabolic disorder
Methylmalonyl-CoA mutase deficiency
Organic aciduria
Phenylketonuria
Tyrosinemia type II
VLCAD
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arginase deficiency
Argininosuccinic acidemia
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Cholesteryl ester storage disease
Congenital disorder of glycosylation
Crigler-Najjar syndrome
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glycogen storage disease
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Guanidinoacetate methyltransferase deficiency
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isovaleric acidemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Menkes syndrome
Metab-L
Methionine synthase deficiency
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Newborn screening
Niemann-Pick disease, type C
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
SCAD deficiency
Sarcosinemia
Schindler disease
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trifunctional protein deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Urea cycle disorder
Urocanic aciduria
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(250)
Cerebrotendineous xanthomatosis
Homocystinuria
Mediterranean fever, familial
Mucopolysa- ccharidosis, type I
Otospondyl- omegaepiphyseal dysplasia
Otospondyl- omegaepiphyseal dysplasia
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3 methylcrotonyl-coa carboxylase deficiency
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abetalipop- roteinemia
Ablepharon macrostomia syndrome
Acatalasia
Aceruloplasminemia
Acheiropodia
Acrocallosal syndrome
Acrodermatitis enteropathica
Acute fatty liver of pregnancy
Adducted thumb syndrome
Adenine phosphorib- osyltransferase deficiency
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aicardi-Goutieres syndrome
Aldolase A deficiency
Alkaptonuria
Alpha-mannosidosis
Antley-Bixler syndrome
Arginase deficiency
Argininosuccinic acidemia
Arterial tortuosity syndrome
Aspartylgl- ucosaminuria
Atelosteogenesis, type II
Atransferrinemia
Bare lymphocyte syndrome
Batten disease
Behr's syndrome
Bernard-Soulier syndrome
Beta-ketothiolase deficiency
Beta-mannosidosis
Bietti's crystalline dystrophy
Biotinidase deficiency
Bloom syndrome
Blue diaper syndrome
CAMFAK syndrome
Canavan disease
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine uptake defect
Carnitine-- acylcarnitine translocase deficiency
Carnosinemia
Carpenter syndrome
Cartilage–hair hypoplasia
Cenani Lenz syndactylism
Chediak–Higashi syndrome
Chondrodystrophy
Chorea acanthocytosis
Citrullinemia
Cockayne syndrome
Compound heterozygosity
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital hepatic fibrosis
Congenital ichthyosiform erythroderma
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
Cystathioninuria
Cystic fibrosis
Cystinosis
Cystinuria
D-Glyceric acidemia
DOOR syndrome
Diastrophic dysplasia
Dihydropyrimidine dehydrogenase deficiency
Donohue syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
EAST syndrome
EEM syndrome
Ellis-van Creveld syndrome
Essential fructosuria
Ethylmalonic encephalopathy
Familial dysautonomia
Familial isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Finnish heritage disease
Fountain syndrome
Fraser syndrome
Friedreich's ataxia
Fucosidosis
Fumarase deficiency
GM2-gangliosidosis, AB variant
Galactokinase deficiency
Galactose epimerase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galloway Mowat syndrome
Gangliosidosis
Gastroschisis
Gaucher's disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric acidemia type I
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Harlequin type ichthyosis
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypertryptophanemia
Hypervalinemia
ICF syndrome
Ichthyosis lamellaris
Iminoglycinuria
Impossible syndrome
Infantile free sialic acid storage disease
Infantile neuroaxonal dystrophy
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Jervell and Lange-Nielsen syndrome
Johanson-Blizzard syndrome
Juvenile Primary Lateral Sclerosis
Kaufman oculocerebrofacial syndrome
Keutel syndrome
Kindler syndrome
Krabbe disease
LCHAD
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Lipid storage disorder
Lipoid congenital adrenal hyperplasia
Lucey-Driscoll syndrome
Lysinuric protein intolerance
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
McArdles syndrome
Meckel syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Mevalonate kinase deficiency
Micro syndrome
Microvillous inclusion disease
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
N-Acetylglutamate synthase deficiency
Nemaline myopathy
Nephronophthisis
Netherton syndrome
Neuronal ceroid lipofuscinosis
Nezelof syndrome
Niemann-Pick disease, type C
Niemann–Pick disease
Ochronosis
Oculodentodigital syndrome
Oguchi disease
Omenn syndrome
Ornithine translocase deficiency
Orotic aciduria
Papillon–Lefèvre syndrome
Pendred syndrome
Persistent Mullerian duct syndrome
Phenylketonuria
Phosphofructokinase deficiency
Primary ciliary dyskinesia
Progressive external ophthalmoplegia
Prolidase deficiency
Propionic acidemia
Pseudodominance
Pseudoxanthoma elasticum
Purine nucleoside phosphorylase deficiency
Pycnodysostosis
Pyruvate carboxylase deficiency
Rabson-Mendenhall syndrome
Raine syndrome
Rapadilino syndrome
Recessive multiple epiphyseal dysplasia
Renal dysplasia-limb defects syndrome
Renal-hepa- tic-pancreatic dysplasia
Reproductive compensation
Restrictive dermopathy
Richner Hanhart syndrome
Rothmund–Thomson syndrome
Rotor syndrome
SCAD deficiency
Sabinas brittle hair syndrome
Saccharopinuria
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sarcosinemia
Shwachman-Diamond syndrome
Sickle cell trait
Sickle-cell disease
Situs inversus
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Sugarman syndrome
Survival motor neuron spinal muscular atrophy
Tangier disease
Tay-Sachs disease
Tetrahydrobiopterin deficiency
Thalassemia
Trifunctional protein deficiency
Trimethylaminuria
Triosephosphate isomerase deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urbach–Wiethe disease
Urocanic aciduria
Usher syndrome
VLCAD
Vaso-occlusive crisis
Vici syndrome
Weissenbac- her-Zweymüller syndrome
Werner syndrome
Wilson's disease
Wolcott-Rallison syndrome
Wolman disease
Woodhouse-Sakati syndrome
Xeroderma pigmentosum
Yunis-Varon syndrome
ZAP70 deficiency
Zazam Sheriff Phillips syndrome
Zunich–Kaye syndrome
more...
Genetic disorders
(44)
Muenke syndrome
Muscular dystrophy - Duchenne type
McArdles syndrome
Maple syrup urine disease
Glutaric acidemia type I
Glutaric acidemia type I
3 methylcrotonyl-coa carboxylase deficiency
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
Carnitine uptake defect
Beta-ketothiolase deficiency
Propionic acidemia
Phenylketonuria
D-Glyceric acidemia
Trifunctional protein deficiency
Carbamoyl phosphate synthetase I deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Methionine synthase deficiency
Galactosemia
VLCAD
Organic aciduria
Argininosuccinic acidemia
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Cerebrotendineous xanthomatosis
Cystathioninuria
2-Hydroxyglutaric aciduria
Mediterranean fever, familial
Acatalasia
Tyrosinemia type II
Homocystinuria
Acrocephal- opolysyndactyly
Gangliosidoses gm2
6-pyruvoyl- tetrahydropterin synthase deficiency
Citrullinemia
Mucopolysa- ccharidosis, type I
Holocarboxylase synthetase deficiency
LCHAD
SCAD deficiency
Mowat-Wilson syndrome
Hartnup disease
Metachromatic leukodystrophy
Otospondyl- omegaepiphyseal dysplasia
Arginase deficiency
Sarcosinemia
more...
Diseases and disorders
(54)
Mesangiocapillary glomerulonephritis
Mammary dysplasia
Malignant melanoma
Metabolic disorders
Acidemia
Acidemia
Hypotonia
Inborn errors of renal tubular transport
Congenital hypothyroidism
Centronuclear myopathy (including myotubular myopathy)
Acidemia isovaleric
Acanthoche- ilonemiasis
Hyperammonemia
Acidemia propionic
Melnick-needles syndrome
Sphingolipidoses
Agenesis of corpus callosum
Astrocytoma
Hyperornithinemia
Vitamin B12 Deficiency
Meningococcal
Medulloblastoma
Megalencephaly
Megarectum
Maple syrup urine disease
Carnitine uptake defect
Beta-ketothiolase deficiency
Phenylketonuria
D-Glyceric acidemia
Trifunctional protein deficiency
Muenke syndrome
Carbamoyl phosphate synthetase I deficiency
Methionine synthase deficiency
Galactosemia
Organic aciduria
Menkes syndrome
Argininosuccinic acidemia
Cerebrotendineous xanthomatosis
2-Hydroxyglutaric aciduria
Mediterranean fever, familial
Acatalasia
Tyrosinemia type II
Homocystinuria
Muscular dystrophy - Duchenne type
Acrocephal- opolysyndactyly
Gangliosidoses gm2
6-pyruvoyl- tetrahydropterin synthase deficiency
Citrullinemia
Metabolic disorder
Mucopolysa- ccharidosis, type I
Holocarboxylase synthetase deficiency
Hartnup disease
Metachromatic leukodystrophy
Arginase deficiency
Sarcosinemia
more...
Lysosomal storage diseases
(40)
Alpha-mannosidosis
Aspartylgl- ucosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
Galactosialidosis
Gangliosidoses gm2
Gangliosidosis
Gaucher's disease
Glycogen storage disease type II
Glycoproteinosis
Hunter syndrome
I-cell disease
Krabbe disease
Lipid storage disorder
Lysosomal storage disease
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Mucopolysa- ccharidosis, type I
Multiple sulfatase deficiency
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Pseudo-Hurler polydystrophy
Pycnodysostosis
Salla disease
Sandhoff disease
Sanfilippo syndrome
Schindler disease
Sialidosis
Sly syndrome
Tay-Sachs disease
Wolman disease
more...
EC number
Methylmalonyl-coa mutase
Isovaleryl-CoA dehydrogenase
L-3-hydroxyacyl CoA dehydrogenase
Iduronate sulfatase
Gene
MMACHC
CBLB
CBLC
MMAB
Signs and tests
Ammonia test
Arterial blood gas
Electrolyte levels
Methylmalonic acid blood test
Newborn screening exam
Plasma amino acid test
See also
(20)
Maxillofacial injury
Major depression with psychotic features
Medial collateral ligament
Metabolism
Urea cycle
Urea cycle
Amino acid metabolism
Methylmalonic acid
Methylmalo- nyl-coenzyme A
Cyanocobalamin
Propionyl CoA carboxylase
3-methylcr- otonyl-CoA carboxylase
N-acetylglutamate
Acps
Hypotonic
Coma
Pantothenate kinase-associated neurodegeneration
Acyl CoA dehydrogenase
Muscle glycogen phosphorylase
alopecia cicatrisata
Pcca
more...
more categories...
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