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Propionic Acidemia
Propionic acidemia
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Rare diseases
(15)
Methylmalonic acidemia
Isovaleric acidemia
Beta-ketothiolase deficiency
Newborn screening
Popliteal pterygium syndrome
Popliteal pterygium syndrome
2-Hydroxyglutaric aciduria
Argininosuccinic acidemia
Maple syrup urine disease
Hartnup disease
Lipoidosis
Multiple hereditary exostoses
Ablepharon macrostomia syndrome
Malonic aciduria
Sarcosinemia
Meckel-Gruber syndrome
more...
Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Acatalasia
Arginase deficiency
Arginase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine uptake defect
Citrullinemia
D-Glyceric acidemia
Galactosemia
Glutaric acidemia type I
Glutaric acidemia type II
Glutaricaciduria
Hawkinsinuria
Holocarboxylase synthetase deficiency
Hypermethioninemia
Isobutyryl-CoA dehydrogenase deficiency
LCHAD
Lysinuric protein intolerance
Medium chain acyl CoA dehydrogenase deficiency
Metabolic diseases
Methylmalonyl-CoA mutase deficiency
N-acetylglutamate synthase deficiency
Ornithine transcarbamylase deficiency
Phenylketonuria
SCAD deficiency
Trifunctional protein deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorders
Very-long-chain acyl-CoA dehydrogenase deficiency
2,4 Dienoyl-CoA reductase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininosuccinic acidemia
Aspartylgl- ucosaminuria
Beta-ketothiolase 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
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
Isovaleric acidemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorders
Lipoidosis
Lysosomal storage disease
Lysosomal storage diseases
Malonic aciduria
Maple syrup urine disease
Menkes disease
Metab-L
Methylmalonic acidemia
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
Newborn screening
Niemann-Pick disease, type C
Ornithine translocase deficiency
Prolidase deficiency
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Urocanic aciduria
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(250)
Alkaptonuria
Biotinidase deficiency
Cerebrotendineous xanthomatosis
Congenital adrenal hyperplasia
Cystathioninuria
Cystathioninuria
Homocystinuria
Otospondyl- omegaepiphyseal dysplasia
Shwachman syndrome
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
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
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 due to 21-hydroxylase deficiency
Congenital hepatic fibrosis
Congenital ichthyosiform erythroderma
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
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 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
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 I
Glutaric acidemia type II
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
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Hurler syndrome
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
Lipoid congenital adrenal hyperplasia
Lipoidosis
Lucey-Driscoll syndrome
Lysinuric protein intolerance
Malonic aciduria
Maple syrup urine disease
Meckel-Gruber 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
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
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
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
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
(61)
6-pyruvoyl- tetrahydropterin synthase deficiency
Pallister-Hall syndrome
Thrombocytopenia absent radius
VATER syndrome
Acrocephal- opolysyndactyly
Acrocephal- opolysyndactyly
Nonsyndromic deafness
Laurence Moon syndrome
Spinal and bulbar muscular atrophy
Methylmalonic acidemia
Glutaric acidemia type I
Isovaleric acidemia
Isobutyryl-CoA dehydrogenase deficiency
D-Glyceric acidemia
Carnitine uptake defect
3 methylcrotonyl-coa carboxylase deficiency
Trifunctional protein deficiency
Beta-ketothiolase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Galactosemia
Glutaricaciduria
Very-long-chain acyl-CoA dehydrogenase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Phenylketonuria
Carbamoyl phosphate synthetase I deficiency
Popliteal pterygium syndrome
LCHAD
Cystathioninuria
2-Hydroxyglutaric aciduria
Citrullinemia
Type III tyrosinemia
Cerebrotendineous xanthomatosis
Argininosuccinic acidemia
Acatalasia
Tyrosinemia type II
Maple syrup urine disease
Glutaric acidemia type II
Type I tyrosinemia
Ornithine transcarbamylase deficiency
Holocarboxylase synthetase deficiency
Hartnup disease
Lipoidosis
SCAD deficiency
Hypermethioninemia
Multiple hereditary exostoses
Tyrosinemia
Arginase deficiency
Ablepharon macrostomia syndrome
Otospondyl- omegaepiphyseal dysplasia
Malonic aciduria
Homocystinuria
Shwachman syndrome
Urea cycle disorders
Medium chain acyl CoA dehydrogenase deficiency
N-acetylglutamate synthase deficiency
Sarcosinemia
Lysinuric protein intolerance
Meckel-Gruber syndrome
Alkaptonuria
Hawkinsinuria
Congenital adrenal hyperplasia
Biotinidase deficiency
more...
Genetic disorder
(15)
Methylmalonic acidemia
Trifunctional protein deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Carbamoyl phosphate synthetase I deficiency
Cystathioninuria
Cystathioninuria
Acatalasia
6-pyruvoyl- tetrahydropterin synthase deficiency
SCAD deficiency
Acrocephal- opolysyndactyly
Arginase deficiency
Ablepharon macrostomia syndrome
Malonic aciduria
Sarcosinemia
Laurence Moon syndrome
Hawkinsinuria
more...
Hepatology
Acanthocytosis
Carnitine uptake defect
Meckel-Gruber syndrome
Metabolism
Metabolic disorders
Ketotic
Metabolic diseases
Diseases and disorders
(61)
Craniofrontonasal dysplasia
Inborn errors of renal tubular transport
Floating harbor syndrome
Hyperammonemia
Acidemia isovaleric
Acidemia isovaleric
Acanthoche- ilonemiasis
Fatty acid oxidation disorders
Sphingolipidoses
X-linked hypophosphatemic rickets
Myotonic dystrophy type 2
Agenesis of corpus callosum
Opitz syndrome
Juvenile primary lateral sclerosis
Progressive osseous heteroplasia
Acidemia
Methylmalonic acidemia
D-Glyceric acidemia
Carnitine uptake defect
Trifunctional protein deficiency
Beta-ketothiolase deficiency
Galactosemia
Glutaricaciduria
Metabolic disorders
Phenylketonuria
Carbamoyl phosphate synthetase I deficiency
Popliteal pterygium syndrome
2-Hydroxyglutaric aciduria
Citrullinemia
Cerebrotendineous xanthomatosis
Argininosuccinic acidemia
Acatalasia
Tyrosinemia type II
Maple syrup urine disease
6-pyruvoyl- tetrahydropterin synthase deficiency
Pallister-Hall syndrome
Ornithine transcarbamylase deficiency
Thrombocytopenia absent radius
VATER syndrome
Holocarboxylase synthetase deficiency
Hartnup disease
Lipoidosis
Acrocephal- opolysyndactyly
Multiple hereditary exostoses
Tyrosinemia
Arginase deficiency
Ablepharon macrostomia syndrome
Pick disease of the brain
Malonic aciduria
Homocystinuria
Metabolic diseases
Shwachman syndrome
Urea cycle disorders
Sarcosinemia
Lysinuric protein intolerance
Aplasia cutis congenita
Alkaptonuria
Spinal and bulbar muscular atrophy
Hawkinsinuria
Albinism
Congenital adrenal hyperplasia
Biotinidase deficiency
more...
See also
(20)
Propionyl CoA carboxylase
Pcca
Propionic acid
Acyl CoA dehydrogenase
N-acetylglutamate synthetase
N-acetylglutamate synthetase
L-3-hydroxyacyl CoA dehydrogenase
MCCC1
MMACHC
N-acetylglutamate
Amino acids
Amino isobutyric acid
Isovaleryl-CoA dehydrogenase
Alpha-aminoadipic acid
Chemical substances
alopecia cicatrisata
Hallervorden-spatz syndrome
Carboxylase
Holocarboxylase synthetase
Pick disease of the brain
Objects
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