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Primary Carnitine Deficiency
Primary carnitine deficiency
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Inborn errors of metabolism
(106)
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine palmitoylt- ransferase II deficiency
Glutaric aciduria type 1
Isovaleric acidemia
LCHAD
Malonic aciduria
Metabolic disorder
Methylmalonic acidemia
Mitochondrial trifunctional protein deficiency
Newborn screening
Phenylketonuria
Propionic acidemia
VLCAD deficiency
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
Argininemia
Argininosuccinic aciduria
Aspartylgl- ucosaminuria
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I 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
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
Isobutyryl-coenzyme A dehydrogenase deficiency
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Menkes disease
Metab-L
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
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
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Wolman disease
X-linked ichthyosis
Zellweger syndrome
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Autosomal recessive disorders
(15)
GM2-gangliosidosis, AB variant
Mucopolysa- ccharidosis
Carnitine acylcarnitine translocase deficiency
VLCAD deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine palmitoylt- ransferase I deficiency
3 methylcrotonyl-coa carboxylase deficiency
Malonic aciduria
LCHAD
Mitochondrial trifunctional protein deficiency
Glutaric aciduria type 1
Propionic acidemia
Phenylketonuria
Methylmalonic acidemia
Isovaleric acidemia
more...
Genetic disorders
(18)
Mitochondrial disease
Charcot-Marie Tooth Disease
Carnitine acylcarnitine translocase deficiency
VLCAD deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine palmitoylt- ransferase I deficiency
3 methylcrotonyl-coa carboxylase deficiency
Malonic aciduria
LCHAD
Mitochondrial trifunctional protein deficiency
GM2-gangliosidosis, AB variant
Glutaric aciduria type 1
Propionic acidemia
Phenylketonuria
Methylmalonic acidemia
Isovaleric acidemia
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Mucopolysa- ccharidosis
more...
Hepatology
Reye syndrome
Carnitine palmitoylt- ransferase II deficiency
Carnitine palmitoylt- ransferase I deficiency
Diseases and disorders
(18)
Fatty acid oxidation disorders
Myopathic
Metabolic disorders
Hyperammonemia
Hemodialysis
Hemodialysis
Iodine deficiency
Cardiomyopathy
Male infertility
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase II deficiency
Malonic aciduria
Mitochondrial trifunctional protein deficiency
Phenylketonuria
Methylmalonic acidemia
Metabolic disorder
Reye syndrome
Mucopolysa- ccharidosis
Charcot-Marie Tooth Disease
more...
Rare diseases
(8)
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoylt- ransferase I deficiency
Malonic aciduria
GM2-gangliosidosis, AB variant
Propionic acidemia
Propionic acidemia
Newborn screening
Methylmalonic acidemia
Isovaleric acidemia
more...
Carboxylic acids
Valproic acid
Fatty acids
Alpha lipoic acid
Dietary supplement
Carnitine
Acetyl-l-carnitine
Lysine
Alpha lipoic acid
See also
(20)
SLC22A5
Solute carrier family
Renal reabsorption
Carnitine-- acylcarnitine translocase
Drugs
Drugs
Carnitor
Chemical substances
Acyl CoA dehydrogenase
Long-chain fatty acids
Beta oxidation
Lipoprotein
Cdsp
Autosomal recessive
Chromosome 3
Tamai
Muscle weakness
Cation
Membrane transport protein
Nezu
Sigma-Tau
more...
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