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Beta-ketothiolase Deficiency
Beta-ketothiolase deficiency
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Related in the Kosmos
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Rare diseases
(8)
Argininosuccinic acidemia
Newborn screening
Isovaleric acidemia
Methylmalonic acidemia
Propionic acidemia
Propionic acidemia
Maple syrup urine disease
Bloom syndrome
Cystic fibrosis
more...
Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Carnitine uptake defect
Citrullinemia
Citrullinemia
Galactosemia
Glutaric acidemia type 2
Glutaric acidemia type I
Isobutyryl-CoA dehydrogenase deficiency
LCHAD
Medium chain acyl CoA dehydrogenase deficiency
PKU
Short-chain acyl-CoA dehydrogenase deficiency
Tetrahydrobiopterin deficiency
Trifunctional protein deficiency
Tyrosinemia type II
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 acidemia
Aspartylgl- ucosaminuria
Carbamoyl phosphate synthetase I 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
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
Hawkinsinuria
Hereditary fructose intolerance
Histidinemia
Holocarboxylase synthetase deficiency
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Inborn error of metabolism
Isovaleric acidemia
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
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Newborn screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Prolidase deficiency
Propionic acidemia
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
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Urea cycle disorder
Urocanic aciduria
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(24)
Biotinidase deficiency
Hb S
Homocystinuria
Glutaric acidemia type I
Carnitine uptake defect
Carnitine uptake defect
Trifunctional protein deficiency
Isobutyryl-CoA dehydrogenase deficiency
Very-long-chain acyl-CoA dehydrogenase deficiency
Argininosuccinic acidemia
3 methylcrotonyl-coa carboxylase deficiency
Isovaleric acidemia
LCHAD
Methylmalonic acidemia
Tyrosinemia type II
Medium chain acyl CoA dehydrogenase deficiency
Tetrahydrobiopterin deficiency
Short-chain acyl-CoA dehydrogenase deficiency
Citrullinemia
Glutaric acidemia type 2
Propionic acidemia
PKU
Maple syrup urine disease
Bloom syndrome
Cystic fibrosis
more...
Genetic disorders
(28)
Beta thalassemia
Glutaric acidemia type I
Carnitine uptake defect
Trifunctional protein deficiency
Isobutyryl-CoA dehydrogenase deficiency
Isobutyryl-CoA dehydrogenase deficiency
Very-long-chain acyl-CoA dehydrogenase deficiency
Argininosuccinic acidemia
3 methylcrotonyl-coa carboxylase deficiency
Isovaleric acidemia
LCHAD
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Methylmalonic acidemia
Biotinidase deficiency
Tyrosinemia type II
Medium chain acyl CoA dehydrogenase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Tetrahydrobiopterin deficiency
Short-chain acyl-CoA dehydrogenase deficiency
Citrullinemia
Glutaric acidemia type 2
Propionic acidemia
PKU
Maple syrup urine disease
Hb S
Homocystinuria
Bloom syndrome
Galactosemia
Cystic fibrosis
more...
Diseases and disorders
(20)
Thiolase deficiency
Inborn errors of renal tubular transport
Fatty acid oxidation disorders
Iodine deficiency
Congenital hypothyroidism
Congenital hypothyroidism
Carnitine uptake defect
Trifunctional protein deficiency
Argininosuccinic acidemia
Methylmalonic acidemia
Biotinidase deficiency
Tyrosinemia type II
Citrullinemia
PKU
Maple syrup urine disease
Hb S
Homocystinuria
Beta thalassemia
Bloom syndrome
Galactosemia
Cystic fibrosis
more...
Genetic disorder
Trifunctional protein deficiency
Methylmalonic acidemia
2-Methylbutyryl-CoA dehydrogenase deficiency
Short-chain acyl-CoA dehydrogenase deficiency
See also
(8)
L-3-hydroxyacyl CoA dehydrogenase
Acetoacetyl CoA
Acyl CoA dehydrogenase
Isoleucine
Metabolic
Metabolic
Urea cycle
Hearing test
Amino acid metabolism
more...
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