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Biotinidase Deficiency
Biotinidase deficiency
Overview
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Autosomal recessive disorders
(250)
3 methylcrotonyl-coa carboxylase deficiency
Acatalasia
Aldolase A deficiency
Argininosuccinic acidemia
BH4 deficiency
BH4 deficiency
Beta-ketothiolase deficiency
Carnitine uptake defect
Citrullinemia
Congenital adrenal hyperplasia
Cystic fibrosis
Glutaric acidemia type 2
Glutaric acidemia type I
Hb S
Holocarboxylase synthetase deficiency
Homocystinuria
Isobutyryl-CoA dehydrogenase deficiency
Isovaleric acidemia
LCHAD deficiency
Maple syrup urine disease
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Methylmalonic acidemia
Otospondyl- omegaepiphyseal dysplasia
Phenylketonuria
Propionic acidemia
Trifunctional protein deficiency
Tyrosinemia
Very-long-chain acyl-CoA dehydrogenase deficiency
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abetalipop- roteinemia
Ablepharon macrostomia syndrome
Aceruloplasminemia
Acheiropodia
Acrocallosal syndrome
Acrodermatitis enteropathica
Acute fatty liver of pregnancy
Adducted thumb syndrome
Adenine phosphorib- osyltransferase deficiency
Adenosine deaminase deficiency
Adenylosuccinate lyase deficiency
Aicardi-Goutieres syndrome
Alkaptonuria
Alpha-mannosidosis
Antley-Bixler syndrome
Argininemia
Arterial tortuosity syndrome
Aspartylgl- ucosaminuria
Atelosteogenesis, type II
Atransferrinemia
Bare lymphocyte syndrome
Batten disease
Behr's syndrome
Bernard-Soulier syndrome
Beta-mannosidosis
Bietti's crystalline dystrophy
Bloom syndrome
Blue diaper syndrome
CAMFAK syndrome
Canavan disease
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine-- acylcarnitine translocase deficiency
Carnosinemia
Carpenter syndrome
Cartilage–hair hypoplasia
Cenani Lenz syndactylism
Cerebrotendineous xanthomatosis
Chediak–Higashi syndrome
Chondrodystrophy
Chorea acanthocytosis
Cockayne syndrome
Compound heterozygosity
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital hepatic fibrosis
Congenital ichthyosiform erythroderma
Congenital insensitivity to pain with anhidrosis
Craniodiaphyseal dysplasia
Cystathioninuria
Cystinosis
Cystinuria
D-Glyceric acidemia
DOOR syndrome
Diastrophic dysplasia
Dihydropyrimidine dehydrogenase deficiency
Donohue syndrome
Dubin-Johnson syndrome
Dubowitz syndrome
EAST syndrome
EEM syndrome
Ellis-van Creveld syndrome
Essential fructosuria
Ethylmalonic encephalopathy
Familial Mediterranean fever
Familial dysautonomia
Familial isolated vitamin E deficiency
Fanconi anemia
Farber disease
Fibrochondrogenesis
Finnish heritage disease
Fountain syndrome
Fraser syndrome
Friedreich's ataxia
Fucosidosis
Fumarase deficiency
GM2-gangliosidosis, AB variant
Galactokinase deficiency
Galactose epimerase deficiency
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galloway Mowat syndrome
Gangliosidosis
Gastroschisis
Gaucher's disease
Gerodermia osteodysplastica
Giant axonal neuropathy
Gitelman syndrome
Glanzmann's thrombasthenia
Glucose-galactose malabsorption
Glutathione synthetase deficiency
Glycogen storage disease type I
Glycogen storage disease type II
Glycogen storage disease type III
Glycogen storage disease type V
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Harlequin type ichthyosis
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Hurler syndrome
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypertryptophanemia
Hypervalinemia
ICF syndrome
Ichthyosis lamellaris
Iminoglycinuria
Impossible syndrome
Infantile free sialic acid storage disease
Infantile neuroaxonal dystrophy
Jervell and Lange-Nielsen syndrome
Johanson-Blizzard syndrome
Juvenile Primary Lateral Sclerosis
Kaufman oculocerebrofacial syndrome
Keutel syndrome
Kindler syndrome
Krabbe disease
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Lipid storage disorder
Lipoid congenital adrenal hyperplasia
Lucey-Driscoll syndrome
Lysinuric protein intolerance
Malonyl-CoA decarboxylase deficiency
Meckel syndrome
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Mevalonate kinase deficiency
Micro syndrome
Microvillous inclusion disease
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
Multiple sulfatase deficiency
N-Acetylglutamate synthase deficiency
Nemaline myopathy
Nephronophthisis
Netherton syndrome
Neuronal ceroid lipofuscinosis
Nezelof syndrome
Niemann-Pick disease, type C
Niemann–Pick disease
Ochronosis
Oculodentodigital syndrome
Oguchi disease
Omenn syndrome
Ornithine translocase deficiency
Orotic aciduria
Papillon–Lefèvre syndrome
Pendred syndrome
Persistent Mullerian duct syndrome
Phosphofructokinase deficiency
Primary ciliary dyskinesia
Progressive external ophthalmoplegia
Prolidase deficiency
Pseudodominance
Pseudoxanthoma elasticum
Purine nucleoside phosphorylase deficiency
Pycnodysostosis
Pyruvate carboxylase deficiency
Rabson-Mendenhall syndrome
Raine syndrome
Rapadilino syndrome
Recessive multiple epiphyseal dysplasia
Renal dysplasia-limb defects syndrome
Renal-hepa- tic-pancreatic dysplasia
Reproductive compensation
Restrictive dermopathy
Richner Hanhart syndrome
Rothmund–Thomson syndrome
Rotor syndrome
Sabinas brittle hair syndrome
Saccharopinuria
Salla disease
Sandhoff disease
Sanfilippo syndrome
Sarcosinemia
Short-chain acyl-coenzyme A dehydrogenase deficiency
Shwachman-Diamond syndrome
Sickle cell trait
Situs inversus
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Sugarman syndrome
Survival motor neuron spinal muscular atrophy
Tangier disease
Tay-Sachs disease
Thalassemia
Trimethylaminuria
Triosephosphate isomerase deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia type II
Urbach–Wiethe disease
Urocanic aciduria
Usher syndrome
Vaso-occlusive crisis
Vici syndrome
Weissenbac- her-Zweymüller syndrome
Werner syndrome
Wilson's disease
Wolcott-Rallison syndrome
Wolman disease
Woodhouse-Sakati syndrome
Xeroderma pigmentosum
Yunis-Varon syndrome
ZAP70 deficiency
Zazam Sheriff Phillips syndrome
Zunich–Kaye syndrome
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Genetic disorders
(34)
Organic aciduria
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
Kniest dysplasia
Galactosemia
Galactosemia
Alpha 1 antitrypsin deficiency
Inherited disorder
Holocarboxylase synthetase deficiency
Glutaric acidemia type I
Carnitine uptake defect
Beta-ketothiolase deficiency
Aldolase A deficiency
Trifunctional protein deficiency
Argininosuccinic acidemia
3 methylcrotonyl-coa carboxylase deficiency
Isobutyryl-CoA dehydrogenase deficiency
Very-long-chain acyl-CoA dehydrogenase deficiency
Glutaric acidemia type 2
BH4 deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency
LCHAD deficiency
Otospondyl- omegaepiphyseal dysplasia
Maple syrup urine disease
Acatalasia
Isovaleric acidemia
Propionic acidemia
Homocystinuria
Methylmalonic acidemia
Citrullinemia
Tyrosinemia
Phenylketonuria
Hb S
Cystic fibrosis
Congenital adrenal hyperplasia
more...
Diseases and disorders
(32)
Multiple carboxylase deficiency late onset
Metabolic disorders
Late-onset multiple carboxylase deficiency
Fatty acid oxidation disorders
Acidaemia
Acidaemia
Iodine deficiency
Congenital hypothyroidism
Menkes syndrome
Hyperammonemia
Hemoglobinopathies
Inborn error of metabolism
Hypotonia
Holocarboxylase synthetase deficiency
Carnitine uptake defect
Beta-ketothiolase deficiency
Aldolase A deficiency
Trifunctional protein deficiency
Argininosuccinic acidemia
Organic aciduria
Maple syrup urine disease
Acatalasia
Homocystinuria
Kniest dysplasia
Galactosemia
Methylmalonic acidemia
Citrullinemia
Tyrosinemia
Phenylketonuria
Hb S
Alpha 1 antitrypsin deficiency
Cystic fibrosis
Congenital adrenal hyperplasia
more...
Metabolic disorders
Inborn errors of metabolism
Lipid storage disorders
Homocystinuria
Galactosemia
Rare diseases
(10)
Newborn screening
Beta-ketothiolase deficiency
Aldolase A deficiency
Argininosuccinic acidemia
Maple syrup urine disease
Maple syrup urine disease
Isovaleric acidemia
Propionic acidemia
Methylmalonic acidemia
Menkes syndrome
Cystic fibrosis
more...
Pediatrics
Inborn errors of metabolism
Newborn screening
Congenital hypothyroidism
Inborn error of metabolism
Cystic fibrosis
Congenital adrenal hyperplasia
EC 6.4.1
Methylcrotonyl-CoA carboxylase
Propionyl CoA carboxylase
Pyruvate carboxylase
2-oxoglutarate carboxylase
Acetone carboxylase
Acetyl-CoA carboxylase
Geranoyl-CoA carboxylase
Genetics
Biotinidase
Medical genetics
Mutations
Inherited disorder
Symptoms
Developmental delay
Alopecia
Hypotonia
Inborn errors of metabolism
(107)
2,4 Dienoyl-CoA reductase deficiency
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
3-hydroxya- cyl-coenzyme A 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 acidemia
Aspartylgl- ucosaminuria
BH4 deficiency
Beta-ketothiolase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine palmitoylt- ransferase I deficiency
Carnitine palmitoylt- ransferase II deficiency
Carnitine uptake defect
Carnitine-- acylcarnitine translocase 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 deficiency
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-coenzyme A dehydrogenase deficiency
Menkes syndrome
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 aciduria
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Phenylketonuria
Prolidase deficiency
Propionic acidemia
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
Trifunctional protein deficiency
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Very-long-chain acyl-CoA dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
See also
(14)
Holocarboxylase synthetase
Biotin
Biotin metabolism
L-3-hydroxyacyl CoA dehydrogenase
Carboxylase
Carboxylase
Biotin deficiency
Autosomal recessive
Acyl CoA dehydrogenase
Anatomy
Catalyzes
Hearing test
The March of Dimes
Avidin
Amino acid
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