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Carbamoyl Phosphate Synthetase I Deficiency
Carbamoyl phosphate synthetase I deficiency
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Genetic disorder
(8)
Acatalasia
Arginase deficiency
Methylmalonic acidemia
2-Methylbutyryl-CoA dehydrogenase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactose-- 1-phosphate uridylyltransferase galactosemia
6-pyruvoyl- tetrahydropterin synthase deficiency
Sarcosinemia
Hawkinsinuria
more...
Inborn errors of metabolism
(106)
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Argininosuccinic aciduria
Beta-ketothiolase deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Citrullinemia
Isovaleric acidemia
Maple syrup urine disease
N-acetylglutamate synthetase deficiency
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Propionic acidemia
Tyrosinemia
Urea cycle disorder
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
Arakawa's syndrome II
Arginase deficiency
Aspartylgl- ucosaminuria
Carnitine-- acylcarnitine translocase deficiency
Cholesteryl ester storage disease
Congenital disorder of glycosylation
Crigler-Najjar syndrome
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
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
Inborn error of 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
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Mitochondrial trifunctional protein deficiency
Myoadenylate deaminase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
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 type II
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(21)
Cerebrotendineous xanthomatosis
2-Hydroxyglutaric aciduria
Hartnup disease
Cystinosis
Ornithine translocase deficiency
Ornithine translocase deficiency
N-acetylglutamate synthetase deficiency
Acatalasia
Arginase deficiency
Carnitine palmitoylt- ransferase I deficiency
Propionic acidemia
3 methylcrotonyl-coa carboxylase deficiency
Carnitine palmitoylt- ransferase II deficiency
Methylmalonic acidemia
Galactose-- 1-phosphate uridylyltransferase galactosemia
Sarcosinemia
Citrullinemia
Isovaleric acidemia
Beta-ketothiolase deficiency
Argininosuccinic aciduria
Tyrosinemia
Maple syrup urine disease
more...
Genetic disorders
(27)
Ornithine translocase deficiency
N-acetylglutamate synthetase deficiency
Cerebrotendineous xanthomatosis
Acatalasia
Arginase deficiency
Arginase deficiency
Carnitine palmitoylt- ransferase I deficiency
Propionic acidemia
3 methylcrotonyl-coa carboxylase deficiency
Carnitine palmitoylt- ransferase II deficiency
Methylmalonic acidemia
2-Hydroxyglutaric aciduria
Urea cycle disorder
2-Methylbutyryl-CoA dehydrogenase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
6-pyruvoyl- tetrahydropterin synthase deficiency
Ornithine transcarbamylase deficiency
Hartnup disease
Sarcosinemia
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Citrullinemia
Hawkinsinuria
Isovaleric acidemia
Beta-ketothiolase deficiency
Argininosuccinic aciduria
Tyrosinemia
Maple syrup urine disease
Cystinosis
more...
Medical condition
(23)
Inborn errors of renal tubular transport
Hyperammonemia
Ornithine transcarbamylase
Albinism
Cerebrotendineous xanthomatosis
Cerebrotendineous xanthomatosis
Acatalasia
Arginase deficiency
Carnitine palmitoylt- ransferase II deficiency
Methylmalonic acidemia
2-Hydroxyglutaric aciduria
Urea cycle disorder
Galactose-- 1-phosphate uridylyltransferase galactosemia
6-pyruvoyl- tetrahydropterin synthase deficiency
Ornithine transcarbamylase deficiency
Hartnup disease
Sarcosinemia
Citrullinemia
Hawkinsinuria
Beta-ketothiolase deficiency
Argininosuccinic aciduria
Tyrosinemia
Maple syrup urine disease
Cystinosis
more...
Inborn error of metabolism
Ornithine translocase deficiency
N-Acetylglutamate synthase deficiency
2-Hydroxyglutaric aciduria
Ornithine transcarbamylase deficiency
Citrullinemia
Enzymes
Carbamoyl phosphate synthetase
Carbamoyl phosphate synthetase II
Enzyme
Argininosuccinate synthetase
See also
(20)
Diseases and disorders
Carbamoyl phosphate synthetase I
Carbamoyl phosphate
Ornithine translocase
N-acetylglutamate
N-acetylglutamate
Metabolic
Urea cycle
Leukoencephalopathy with vanishing white matter
Argininosuccinate
Argininosuccinate lyase
Fructose bisphosphatase deficiency
Chemical substances
Pyrimidine
Anatomy
Objects
Amino acid metabolism
Cytosolic
Purine
NAGS
Synthetase
more...
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