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Vlcad Deficiency
VLCAD deficiency
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Inborn errors of metabolism
(106)
2,4 Dienoyl-CoA reductase deficiency
Aciduria
Argininosuccinic acidemia
Beta-ketothiolase deficiency
Carnitine uptake defect
Carnitine uptake defect
Citrullinemia
Galactosemia
Glutaric acidemia type 2
Glutaric acidemia type I
HMG-CoA lyase deficiency
Isovaleric acidemia
LCHAD
MCAD deficiency
MSUD
Methylcrotonyl-CoA carboxylase deficiency
Methylmalonic acidemia
Newborn screening
PKU
Propionic acidemia
SCAD deficiency
Trifunctional protein deficiency
Tyrosinemia type II
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
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
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
Malonyl-CoA decarboxylase deficiency
Menkes disease
Metab-L
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
N-Acetylglutamate synthase deficiency
Niemann-Pick disease, type C
Ornithine transcarbamylase deficiency
Ornithine translocase 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
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Urea cycle disorder
Urocanic aciduria
Wolman disease
X-linked ichthyosis
Zellweger syndrome
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Autosomal recessive disorders
(22)
Biotinidase deficiency
Hb S
Homocystinuria
Congenital adrenal hyperplasia
Cystic fibrosis
Cystic fibrosis
Glutaric acidemia type I
Carnitine uptake defect
Trifunctional protein deficiency
LCHAD
Argininosuccinic acidemia
Beta-ketothiolase deficiency
MCAD deficiency
SCAD deficiency
Methylcrotonyl-CoA carboxylase deficiency
Methylmalonic acidemia
Isovaleric acidemia
Glutaric acidemia type 2
Propionic acidemia
PKU
Citrullinemia
Tyrosinemia type II
MSUD
more...
Genetic disorders
(30)
Vrolik disease
Vitelliform macular dystrophy
Velocardiofacial syndrome
Variegate porphyria
Glutaric acidemia type I
Glutaric acidemia type I
Carnitine uptake defect
Trifunctional protein deficiency
LCHAD
Argininosuccinic acidemia
Beta-ketothiolase deficiency
2,4 Dienoyl-CoA reductase deficiency
MCAD deficiency
SCAD deficiency
Methylcrotonyl-CoA carboxylase deficiency
Methylmalonic acidemia
Isovaleric acidemia
Glutaric acidemia type 2
Biotinidase deficiency
Propionic acidemia
PKU
HMG-CoA lyase deficiency
Citrullinemia
Tyrosinemia type II
MSUD
Aciduria
Galactosemia
Hb S
Homocystinuria
Congenital adrenal hyperplasia
Cystic fibrosis
more...
Genetic disorder
Trifunctional protein deficiency
2,4 Dienoyl-CoA reductase deficiency
SCAD deficiency
Methylmalonic acidemia
Rare diseases
(8)
Argininosuccinic acidemia
Newborn screening
Beta-ketothiolase deficiency
Methylmalonic acidemia
Isovaleric acidemia
Isovaleric acidemia
Propionic acidemia
MSUD
Cystic fibrosis
more...
Pediatrics
Congenital hypothyroidism
Newborn screening
Congenital adrenal hyperplasia
Cystic fibrosis
Diseases and disorders
(26)
Fatty acid oxidation disorders
Ventriculo-arterial discordance isolated
Long-chain acyl-coa dehydrogenase deficiency
Iodine deficiency
Cardiomyopathy
Cardiomyopathy
Carnitine uptake defect
Trifunctional protein deficiency
Argininosuccinic acidemia
Beta-ketothiolase deficiency
Vrolik disease
Methylmalonic acidemia
Biotinidase deficiency
PKU
Citrullinemia
Tyrosinemia type II
MSUD
Velocardiofacial syndrome
Variegate porphyria
Aciduria
Galactosemia
Hb S
Homocystinuria
Congenital hypothyroidism
Congenital adrenal hyperplasia
Cystic fibrosis
Hypoglycemia
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See also
(13)
Long-chain-acyl-CoA dehydrogenase
Very long-chain acyl-coenzyme A dehydrogenase
Acyl CoA dehydrogenase
L-3-hydroxyacyl CoA dehydrogenase
Mitochondrial trifunctional protein
Mitochondrial trifunctional protein
Carnitine-- acylcarnitine translocase
Fatty acid oxidation
Beta oxidation
Fatty acids
Hearing test
Tandem mass spectrometry
Adjacent
Hypoglycemia
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