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Holocarboxylase Synthetase Deficiency
Holocarboxylase synthetase deficiency
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Inborn errors of metabolism
(106)
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Acatalasia
Aldolase A deficiency
Citrullinemia
Glutaric aciduria type 1
Glutaric aciduria type 1
Hyperprolinemia
Inborn error of metabolism
Isovaleric acidemia
Lipid storage disorders
MCC deficiency
Methylmalonic acidemia
Newborn screening
Organic aciduria
Propionic acidemia
Trifunctional protein deficiency
Very-long-chain acyl-CoA dehydrogenase deficiency
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Acid lipase disease
Adenosine deaminase deficiency
Adenylosuccinate lyase 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
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
Hyperlysinemia
Hypermethioninemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
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
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
Phenylketonuria
Primary carnitine 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
(14)
Biotinidase deficiency
Homocystinuria
Cystic fibrosis
Aldolase A deficiency
Hyperprolinemia
Hyperprolinemia
MCC deficiency
Acatalasia
Glutaric aciduria type 1
Very-long-chain acyl-CoA dehydrogenase deficiency
Propionic acidemia
Trifunctional protein deficiency
Isovaleric acidemia
Citrullinemia
Methylmalonic acidemia
more...
Genetic disorders
(19)
Hereditary motor sensory neuropathy
Hypophosphatasia
Alpha 1 antitrypsin deficiency
Aldolase A deficiency
Biotinidase deficiency
Biotinidase deficiency
Hyperprolinemia
MCC deficiency
Organic aciduria
Acatalasia
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Glutaric aciduria type 1
Very-long-chain acyl-CoA dehydrogenase deficiency
Propionic acidemia
Trifunctional protein deficiency
Isovaleric acidemia
Citrullinemia
Methylmalonic acidemia
Homocystinuria
Cystic fibrosis
more...
Medical condition
(16)
Late-onset multiple carboxylase deficiency
Hyperammonemia
Aldolase A deficiency
Biotinidase deficiency
Hyperprolinemia
Hyperprolinemia
Organic aciduria
Acatalasia
Hereditary motor sensory neuropathy
Trifunctional protein deficiency
Citrullinemia
Hypophosphatasia
Methylmalonic acidemia
Inborn error of metabolism
Homocystinuria
Alpha 1 antitrypsin deficiency
Cystic fibrosis
more...
Rare diseases
Aldolase A deficiency
Propionic acidemia
Isovaleric acidemia
Hypophosphatasia
Methylmalonic acidemia
Newborn screening
Cystic fibrosis
EC 6.4.1
Methylcrotonyl-CoA carboxylase
Propionyl CoA carboxylase
Pyruvate carboxylase
2-oxoglutarate carboxylase
Acetone carboxylase
Acetyl-CoA carboxylase
Geranoyl-CoA carboxylase
See also
(19)
Diseases and disorders
Holocarboxylase synthetase
Biotinidase
Biotin
Biotin metabolism
Biotin metabolism
Carboxylase
Biotin deficiency
PAH gene
Anatomy
Magnesium deficiency (medicine)
Autosomal recessive
Biotinylation
Catalyzes
Holoprosencephaly
Metabolic
Heliospheric current sheet
Chromosomes
Coenzyme a
Hypertrophy
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