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Carnitine-- Acylcarnitine Translocase Deficiency
Carnitine-- Acylcarnitine Translocase Deficiency
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Related in the Kosmos
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Autosomal recessive disorders
(17)
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine palmitoylt- ransferase I deficiency
Isobutyryl-CoA dehydrogenase deficiency
Carnitine deficiency
Carnitine deficiency
VLCAD
LCHAD
Short-chain acyl-CoA dehydrogenase deficiency
Tyrosinemia type II
Glutaric acidemia type I
Trifunctional protein deficiency
Medium chain acyl CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
Propionic acidemia
Methylmalonic acidemia
Isovaleric acidemia
PKU
more...
Rare diseases
Newborn screening
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase I deficiency
Propionic acidemia
Methylmalonic acidemia
Isovaleric acidemia
Diseases and disorders
(15)
Fatty acid oxidation disorders
Carnitine palmitoyl transferase deficiency
Cerebral cavernous malformation
Myopathic
Charcot-Marie Tooth Disease
Charcot-Marie Tooth Disease
Aciduria
Hyperammonemia
Iodine deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine deficiency
Tyrosinemia type II
Trifunctional protein deficiency
Methylmalonic acidemia
PKU
more...
Inborn errors of metabolism
(107)
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acatalasia
Acid lipase disease
Aciduria
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 acylcarnitine translocase deficiency
Carnitine deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II 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 acidemia type I
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-CoA dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
LCHAD
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 CoA dehydrogenase deficiency
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
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
PKU
Prolidase deficiency
Propionic acidemia
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Sarcosinemia
Schindler disease
Short-chain acyl-CoA dehydrogenase deficiency
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Tetrahydrobiopterin deficiency
Trifunctional protein deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
VLCAD
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Genetic disorders
(23)
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine palmitoylt- ransferase I deficiency
Isobutyryl-CoA dehydrogenase deficiency
Carnitine deficiency
Carnitine deficiency
VLCAD
LCHAD
2,4 Dienoyl-CoA reductase deficiency
Short-chain acyl-CoA dehydrogenase deficiency
Tyrosinemia type II
Glutaric acidemia type I
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Trifunctional protein deficiency
Cerebral cavernous malformation
2-Methylbutyryl-CoA dehydrogenase deficiency
Medium chain acyl CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
Propionic acidemia
Methylmalonic acidemia
Isovaleric acidemia
Charcot-Marie Tooth Disease
Aciduria
PKU
more...
Health
Anatomy
Drugs
Diseases and disorders
Biochemistry
Carnitine
Energy metabolism
Metabolic
See also
(9)
Carnitine-- acylcarnitine translocase
Acyl CoA dehydrogenase
Carnitine palmitoylt- ransferase
Fatty acid oxidation
Mitochondrial matrix
Mitochondrial matrix
Beta oxidation
Long-chain fatty acids
Mutations
Solute carrier family
more...
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