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N-acetylglutamate Synthase Deficiency
N-Acetylglutamate synthase deficiency
Overview
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Related in the Kosmos
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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
Carbamoyl phosphate synthetase I deficiency
Citrullinemia
Citrullinemia
Galactose-- 1-phosphate uridylyltransferase galactosemia
Glutaric acidemia type 1
Hawkinsinuria
Maple syrup urine disease
Ornithine translocase deficiency
Sarcosinemia
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Urea cycle disorders
Urocanic aciduria
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
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
D-Glyceric acidemia
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
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
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
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
Ornithine transcarbamylase deficiency
Phenylketonuria
Primary carnitine deficiency
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trimethylaminuria
Tyrosinemia type II
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
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Autosomal recessive disorders
(16)
Cerebrotendineous xanthomatosis
Hypertryptophanemia
2-Hydroxyglutaric aciduria
Hartnup disease
Ornithine translocase deficiency
Ornithine translocase deficiency
Type III tyrosinemia
Glutaric acidemia type 1
Carbamoyl phosphate synthetase I deficiency
Type I tyrosinemia
Urocanic aciduria
3 methylcrotonyl-coa carboxylase deficiency
Sarcosinemia
Galactose-- 1-phosphate uridylyltransferase galactosemia
Citrullinemia
Tyrosinemia
Maple syrup urine disease
more...
Genetic disorders
(23)
Gangliosidoses gm2
6-pyruvoyl- tetrahydropterin synthase deficiency
Pipecolic acidemia
Ornithine translocase deficiency
Cerebrotendineous xanthomatosis
Cerebrotendineous xanthomatosis
Hypertryptophanemia
Type III tyrosinemia
Glutaric acidemia type 1
Carbamoyl phosphate synthetase I deficiency
Type I tyrosinemia
Urocanic aciduria
2-Hydroxyglutaric aciduria
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
Sarcosinemia
Hawkinsinuria
Galactose-- 1-phosphate uridylyltransferase galactosemia
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Hartnup disease
Citrullinemia
Tyrosinemia
Urea cycle disorders
Maple syrup urine disease
more...
Rare diseases
(9)
Ornithine translocase deficiency
Hypertryptophanemia
Gangliosidoses gm2
Urocanic aciduria
2-Hydroxyglutaric aciduria
2-Hydroxyglutaric aciduria
Sarcosinemia
Pipecolic acidemia
Hartnup disease
Maple syrup urine disease
more...
Diseases and disorders
(21)
Inborn errors of renal tubular transport
Hyperammonemia
Fructose bisphosphatase deficiency
Iodine deficiency
Cerebrotendineous xanthomatosis
Cerebrotendineous xanthomatosis
Hypertryptophanemia
Gangliosidoses gm2
Carbamoyl phosphate synthetase I deficiency
Urocanic aciduria
6-pyruvoyl- tetrahydropterin synthase deficiency
2-Hydroxyglutaric aciduria
Sarcosinemia
Hawkinsinuria
Galactose-- 1-phosphate uridylyltransferase galactosemia
Pipecolic acidemia
Hartnup disease
Citrullinemia
Tyrosinemia
Urea cycle disorders
Maple syrup urine disease
Albinism
more...
See also
(15)
Enzyme
Enzymes
N-acetylglutamate synthase
N-Acetylglutamic acid
Ornithine translocase
Ornithine translocase
Mixed disorder of acid-base balance
Metabolic
Urea cycle
Amino acid metabolism
Anatomy
Chemical substances
Objects
Cytosol
Ammonia
Albinism
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