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Tyrosinemia Type Ii
Tyrosinemia type II
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Diseases and disorders
(16)
Hypertyrosinemia
Richner Hanhart syndrome
Trifunctional protein deficiency
2-Hydroxyglutaric aciduria
Methylmalonic acidemia
Methylmalonic acidemia
Carnitine palmitoyl transferase deficiency
Citrullinemia
Maple syrup urine disease
Hawkinsinuria
6-pyruvoyl- tetrahydropterin synthase deficiency
Beta-ketothiolase deficiency
Hypersensitivity
Homocystinuria
Argininosuccinic aciduria
Alkaptonuria
Phenylketonuria
more...
Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Hypermethioninemia
Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
LCHAD
Newborn screening
Propionic acidemia
Short-chain acyl-CoA dehydrogenase deficiency
Type I tyrosinemia
Type III tyrosinemia
Very-long-chain acyl-CoA dehydrogenase deficiency
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
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
Hyperprolinemia
Hypertyrosinemia
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
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Niemann-Pick disease, type C
Organic acidemia
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
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trifunctional protein deficiency
Trimethylaminuria
Urea cycle disorder
Urocanic aciduria
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(22)
Type I tyrosinemia
Type III tyrosinemia
Isobutyryl-CoA dehydrogenase deficiency
Hypertyrosinemia
Richner Hanhart syndrome
Richner Hanhart syndrome
Trifunctional protein deficiency
3 methylcrotonyl-coa carboxylase deficiency
2-Hydroxyglutaric aciduria
Methylmalonic acidemia
Short-chain acyl-CoA dehydrogenase deficiency
Isovaleric acidemia
Very-long-chain acyl-CoA dehydrogenase deficiency
Citrullinemia
LCHAD
Maple syrup urine disease
Propionic acidemia
Beta-ketothiolase deficiency
Homocystinuria
Hypermethioninemia
Argininosuccinic aciduria
Alkaptonuria
Phenylketonuria
more...
Genetic disorders
(26)
Type I tyrosinemia
Type III tyrosinemia
Isobutyryl-CoA dehydrogenase deficiency
Hypertyrosinemia
Richner Hanhart syndrome
Richner Hanhart syndrome
2-Methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Trifunctional protein deficiency
3 methylcrotonyl-coa carboxylase deficiency
2-Hydroxyglutaric aciduria
Methylmalonic acidemia
Short-chain acyl-CoA dehydrogenase deficiency
Isovaleric acidemia
Very-long-chain acyl-CoA dehydrogenase deficiency
Citrullinemia
LCHAD
Maple syrup urine disease
Hawkinsinuria
Propionic acidemia
6-pyruvoyl- tetrahydropterin synthase deficiency
Beta-ketothiolase deficiency
Homocystinuria
Hypermethioninemia
Argininosuccinic aciduria
Alkaptonuria
Phenylketonuria
more...
Genetic disorder
Richner Hanhart syndrome
2-Methylbutyryl-CoA dehydrogenase deficiency
Trifunctional protein deficiency
Methylmalonic acidemia
Short-chain acyl-CoA dehydrogenase deficiency
Hawkinsinuria
6-pyruvoyl- tetrahydropterin synthase deficiency
Rare diseases
(9)
Richner Hanhart syndrome
2-Hydroxyglutaric aciduria
Methylmalonic acidemia
Isovaleric acidemia
Maple syrup urine disease
Maple syrup urine disease
Propionic acidemia
Beta-ketothiolase deficiency
Argininosuccinic aciduria
Newborn screening
more...
Aromatic amino acids
Phenylalanine
Tyrosine
D-DOPA
Tryptophan
See also
(10)
NTBC
Amino acid metabolism
Acyl CoA dehydrogenase
Keratoderma
Palmoplantar keratoderma
Palmoplantar keratoderma
Skin lesion
Autosomal recessive
Urea cycle
Hereditary
Ochronosis
more...
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