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3 Methylcrotonyl-coa Carboxylase Deficiency
3 methylcrotonyl-coa carboxylase deficiency
Overview
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Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Argininosuccinic acidemia
Beta-ketothiolase deficiency
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine uptake defect
Citrullinemia
D-Glyceric acidemia
Galactosemia
Glutaric acidemia type I
Hawkinsinuria
Holocarboxylase synthetase deficiency
Hypermethioninemia
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
LCHAD
Maple syrup urine disease
Medium chain acyl CoA dehydrogenase deficiency
Methylmalonic acidemia
N-acetylglutamate synthase deficiency
Newborn screening
Organic aciduria
Phenylketonuria
Propionic acidemia
Sarcosinemia
Short-chain acyl-CoA dehydrogenase deficiency
Trifunctional protein deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urocanic aciduria
Very-long-chain acyl-CoA dehydrogenase deficiency
2,4 Dienoyl-CoA reductase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Aspartylgl- ucosaminuria
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
Glycogen storage disease type V
Guanidinoacetate methyltransferase deficiency
Hereditary fructose intolerance
Histidinemia
Hyperlysinemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of metabolism
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
Menkes disease
Metab-L
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
Niemann-Pick disease, type C
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Prolidase deficiency
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Schindler disease
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Urea cycle disorder
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(250)
2-Hydroxyglutaric aciduria
21 hydroxylase deficiency
Alkaptonuria
Biotinidase deficiency
Cerebrotendineous xanthomatosis
Cerebrotendineous xanthomatosis
Cystinosis
GM2-gangliosidosis, AB variant
Hartnup disease
Hb S
Homocystinuria
Hypertryptophanemia
Ochronosis
17-beta-hy- droxysteroid dehydrogenase 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
Alpha-mannosidosis
Antley-Bixler syndrome
Argininemia
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
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 hepatic fibrosis
Congenital ichthyosiform erythroderma
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
Cystathioninuria
Cystic fibrosis
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 Mediterranean fever
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
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
Glycogen storage disease type V
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Harlequin type ichthyosis
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Hurler syndrome
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
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
Meckel syndrome
Medium chain acyl CoA dehydrogenase deficiency
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Methylmalonic acidemia
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
Oculodentodigital syndrome
Oguchi disease
Omenn syndrome
Ornithine translocase deficiency
Orotic aciduria
Otospondyl- omegaepiphyseal dysplasia
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
Sabinas brittle hair syndrome
Saccharopinuria
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sarcosinemia
Short-chain acyl-CoA dehydrogenase deficiency
Shwachman-Diamond syndrome
Sickle cell trait
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
Vaso-occlusive crisis
Very-long-chain acyl-CoA dehydrogenase deficiency
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
(53)
6-pyruvoyl- tetrahydropterin synthase deficiency
3 methylglutaconyl coa hydratase deficiency
Gangliosidoses gm2
Axanthism
3 hydroxyisobutyric aciduria
3 hydroxyisobutyric aciduria
1p36 deletion syndrome
Cri du chat syndrome
Autosomal recessive disorders
2-Methylbutyryl-CoA dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Isobutyryl-CoA dehydrogenase deficiency
Glutaric acidemia type I
Carnitine uptake defect
Trifunctional protein deficiency
Type III tyrosinemia
N-acetylglutamate synthase deficiency
Very-long-chain acyl-CoA dehydrogenase deficiency
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Argininosuccinic acidemia
Hypertryptophanemia
Isovaleric acidemia
Cerebrotendineous xanthomatosis
Holocarboxylase synthetase deficiency
Type I tyrosinemia
D-Glyceric acidemia
Tyrosinemia type II
Galactosemia
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Propionic acidemia
Methylmalonic acidemia
Sarcosinemia
Citrullinemia
LCHAD
Urocanic aciduria
Organic aciduria
Tyrosinemia
Phenylketonuria
Hawkinsinuria
Biotinidase deficiency
Medium chain acyl CoA dehydrogenase deficiency
GM2-gangliosidosis, AB variant
Maple syrup urine disease
Short-chain acyl-CoA dehydrogenase deficiency
Hartnup disease
Homocystinuria
Alkaptonuria
Hypermethioninemia
21 hydroxylase deficiency
Hb S
Ochronosis
Cystinosis
more...
EC 6.4.1
3-methylcr- otonyl-CoA carboxylase
Acetyl-coa carboxylase
Propionyl CoA carboxylase
2-oxoglutarate carboxylase
Acetone carboxylase
Geranoyl-CoA carboxylase
Pyruvate carboxylase
Genetic disorder
(10)
2-Methylbutyryl-CoA dehydrogenase deficiency
6-pyruvoyl- tetrahydropterin synthase deficiency
Trifunctional protein deficiency
Carbamoyl phosphate synthetase I deficiency
Axanthism
Axanthism
Methylmalonic acidemia
Sarcosinemia
3 hydroxyisobutyric aciduria
Hawkinsinuria
Short-chain acyl-CoA dehydrogenase deficiency
more...
Nutrition disorder
Biotin deficiency
2-Hydroxyglutaric aciduria
Ochronosis
Metabolism
Amino acid metabolism
Metabolic disorders
Coenzyme a
Enzyme
Enzymes
3-methylgl- utaconyl-CoA hydratase
Acyl CoA dehydrogenase
Tyrosinase
Reductase
Enzyme
Diseases and disorders
(45)
3 alpha methylcrotonyl-coa carboxylase 2 deficiency
Inborn errors of renal tubular transport
Thiolase deficiency
Fatty acid oxidation disorders
Iodine deficiency
Iodine deficiency
Hyperammonemia
Melanism
Physiologic nystagmus
Rare diseases
2-Hydroxyglutaric aciduria
6-pyruvoyl- tetrahydropterin synthase deficiency
Carnitine uptake defect
Trifunctional protein deficiency
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Argininosuccinic acidemia
Hypertryptophanemia
Cerebrotendineous xanthomatosis
Holocarboxylase synthetase deficiency
D-Glyceric acidemia
Albinism
Tyrosinemia type II
Galactosemia
Gangliosidoses gm2
Metabolic disorders
Methylmalonic acidemia
Sarcosinemia
Citrullinemia
Urocanic aciduria
Organic aciduria
Tyrosinemia
Phenylketonuria
Hawkinsinuria
Biotinidase deficiency
Maple syrup urine disease
Hartnup disease
Homocystinuria
Alkaptonuria
Hb S
Ochronosis
Congenital hypothyroidism
Cri du chat syndrome
Cystinosis
Strabismus
Hypotonia
more...
See also
(20)
3-methylcrotonyl CoA
Urea cycle
3-methylglutaconyl CoA
Albinism
Holocarboxylase synthetase
Holocarboxylase synthetase
2-methylbu- tyryl-coenzyme A
Biotin
Biotin metabolism
L-3-hydroxyacyl CoA dehydrogenase
Carboxylase
Isovaleryl-CoA dehydrogenase
Biotinidase
Autosomal recessive
Mixed disorder of acid-base balance
Amino acid
Anatomy
Chemical substances
Objects
Albinism in popular culture
OMIM
more...
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