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Organic Acidemia
Organic acidemia
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Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
D-Glyceric acidemia
Glutaric acidemia I
Glutaric acidemia I
Inborn error of metabolism
Isovaleric acid CoA dehydrogenase deficiency
Ketotic glycinemia
Methylmalonic acidemia
Newborn screening
2,4 Dienoyl-CoA reductase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aldolase A deficiency
Analbuminaemia
Arakawa's syndrome II
Argininemia
Argininosuccinic aciduria
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
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
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
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Niemann-Pick disease, type C
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Primary carnitine deficiency
Prolidase deficiency
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
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Genetic disorders
(11)
6-pyruvoyl- tetrahydropterin synthase deficiency
2-Hydroxyglutaric aciduria
Hereditary disorder
Isovaleric acid CoA dehydrogenase deficiency
Glutaric acidemia I
Glutaric acidemia I
Ketotic glycinemia
D-Glyceric acidemia
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Methylmalonic acidemia
3 methylcrotonyl-coa carboxylase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
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Diseases and disorders
(15)
Acidemia propionic
Acidemia isovaleric
Acidemia
Fatty acid oxidation disorders
Metabolic disorders
Metabolic disorders
Oxalosis
Aminoaciduria
Hyperammonemia
Glutaric acidemia
Hypotonia
D-Glyceric acidemia
Methylmalonic acidemia
6-pyruvoyl- tetrahydropterin synthase deficiency
2-Hydroxyglutaric aciduria
Inborn error of metabolism
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Autosomal recessive disorders
Isovaleric acid CoA dehydrogenase deficiency
Glutaric acidemia I
Ketotic glycinemia
D-Glyceric acidemia
Methylmalonic acidemia
3 methylcrotonyl-coa carboxylase deficiency
2-Hydroxyglutaric aciduria
Rare diseases
Isovaleric acid CoA dehydrogenase deficiency
Ketotic glycinemia
Methylmalonic acidemia
2-Hydroxyglutaric aciduria
Newborn screening
Metabolism
Enzyme
Amino acid metabolism
Inborn error of metabolism
Metabolic disorders
Biochemistry
Isovaleryl-CoA
Carnitine
Metabolism
See also
(20)
Enzymes
Isovaleryl-CoA dehydrogenase
Propionyl CoA carboxylase
Ashford, Middlesex
North Plymouth
North Plymouth
Methylmalonyl-coa mutase
Carboxylase
Propionic
Genetic counseling
Autosomal recessive
TW15
Dookie
National Digestive Diseases Information Clearinghouse
Pcca
Urea cycle
IVD
OMIM
7700
Plymouth, MN
Anesthesia
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