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Isovaleric Acidemia
Isovaleric acidemia
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Related in the Kosmos
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Rare diseases
(12)
Beta-ketothiolase deficiency
Newborn screening
Methylmalonic acidemia
Argininosuccinic acidemia
Ketotic glycinemia
Ketotic glycinemia
2-Hydroxyglutaric aciduria
Maple syrup urine disease
Gangliosidoses gm2
Sarcosinemia
Hartnup disease
Acute intermittent porphyria
Cystic fibrosis
more...
Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Carbamoyl phosphate synthetase I deficiency
Carnitine uptake defect
Carnitine uptake defect
Citrullinemia
D-Glyceric acidemia
Galactosemia
Glutaric acidemia type I
Holocarboxylase synthetase deficiency
Hypermethioninemia
Isobutyryl-CoA dehydrogenase deficiency
LCHAD
Lipid storage disorders
Medium chain acyl CoA dehydrogenase deficiency
Metabolic diseases
N-acetylglutamate synthase deficiency
Organic acidemia
Phenylketonuria
Short-chain acyl-CoA dehydrogenase deficiency
Trifunctional protein deficiency
Tyrosinemia
Tyrosinemia type II
Urea cycle disorders
Very-long-chain acyl-CoA dehydrogenase deficiency
2,4 Dienoyl-CoA reductase 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
Beta-ketothiolase 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
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
Galactose-- 1-phosphate uridylyltransferase 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
Hyperprolinemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Ketotic glycinemia
Krabbe disease
Lecithin cholesterol acyltransferase deficiency
Lesch–Nyhan syndrome
Lipid storage disorder
Lysinuric protein intolerance
Lysosomal storage disease
Lysosomal storage diseases
Malonyl-CoA decarboxylase deficiency
Maple syrup urine disease
Menkes disease
Metab-L
Methylmalonic acidemia
Methylmalonyl-CoA mutase deficiency
Mevalonate kinase deficiency
Myoadenylate deaminase deficiency
Newborn screening
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
Urocanic aciduria
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Autosomal recessive disorders
(250)
Biotinidase deficiency
Cerebrotendineous xanthomatosis
Congenital adrenal hyperplasia
Hb S
Homocystinuria
Homocystinuria
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3 methylcrotonyl-coa carboxylase deficiency
Abdallat Davis Farrage syndrome
Abderhalde- n-Kaufmann-Lignac syndrome
Abetalipop- roteinemia
Ablepharon macrostomia syndrome
Acatalasia
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
Aldolase A deficiency
Alkaptonuria
Alpha-mannosidosis
Antley-Bixler syndrome
Argininemia
Argininosuccinic acidemia
Arterial tortuosity syndrome
Aspartylgl- ucosaminuria
Atelosteogenesis, type II
Atransferrinemia
Bare lymphocyte syndrome
Batten disease
Behr's syndrome
Bernard-Soulier syndrome
Beta-ketothiolase deficiency
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 uptake defect
Carnitine-- acylcarnitine translocase deficiency
Carnosinemia
Carpenter syndrome
Cartilage–hair hypoplasia
Cenani Lenz syndactylism
Chediak–Higashi syndrome
Chondrodystrophy
Chorea acanthocytosis
Citrullinemia
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
Cystic fibrosis
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
Glutaric acidemia type 2
Glutaric acidemia type I
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
Holocarboxylase synthetase deficiency
Hurler syndrome
Hyperlysinemia
Hypermethioninemia
Hyperprolinemia
Hypertryptophanemia
Hypervalinemia
ICF syndrome
Ichthyosis lamellaris
Iminoglycinuria
Impossible syndrome
Infantile free sialic acid storage disease
Infantile neuroaxonal dystrophy
Isobutyryl-CoA dehydrogenase deficiency
Jervell and Lange-Nielsen syndrome
Johanson-Blizzard syndrome
Juvenile Primary Lateral Sclerosis
Kaufman oculocerebrofacial syndrome
Ketotic glycinemia
Keutel syndrome
Kindler syndrome
Krabbe disease
LCHAD
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
Maple syrup urine disease
Meckel syndrome
Medium chain acyl CoA dehydrogenase deficiency
Meleda disease
Metachromatic leukodystrophy
Methemoglobinemia
Methylmalonic acidemia
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
Otospondyl- omegaepiphyseal dysplasia
Papillon–Lefèvre syndrome
Pendred syndrome
Persistent Mullerian duct syndrome
Phenylketonuria
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-CoA 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
Tetrahydrobiopterin deficiency
Thalassemia
Trifunctional protein deficiency
Trimethylaminuria
Triosephosphate isomerase deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urbach–Wiethe disease
Urocanic aciduria
Usher syndrome
Vaso-occlusive crisis
Very-long-chain acyl-CoA dehydrogenase deficiency
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
more...
Genetic disorders
(43)
Acrocephal- opolysyndactyly
6-pyruvoyl- tetrahydropterin synthase deficiency
Porphyria
Hereditary disorder
Glutaric acidemia type I
Glutaric acidemia type I
Carnitine uptake defect
Isobutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
Trifunctional protein deficiency
Beta-ketothiolase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
Phenylketonuria
Very-long-chain acyl-CoA dehydrogenase deficiency
Methylmalonic acidemia
2-Methylbutyryl-CoA dehydrogenase deficiency
Argininosuccinic acidemia
LCHAD
Citrullinemia
Cerebrotendineous xanthomatosis
Ketotic glycinemia
D-Glyceric acidemia
Medium chain acyl CoA dehydrogenase deficiency
2-Hydroxyglutaric aciduria
Tyrosinemia type II
Holocarboxylase synthetase deficiency
Maple syrup urine disease
Gangliosidoses gm2
Hypermethioninemia
Short-chain acyl-CoA dehydrogenase deficiency
Biotinidase deficiency
Tyrosinemia
Urea cycle disorders
Organic acidemia
Homocystinuria
Sarcosinemia
Hartnup disease
N-acetylglutamate synthase deficiency
Carbamoyl phosphate synthetase I deficiency
Galactosemia
Hb S
Congenital adrenal hyperplasia
Acute intermittent porphyria
Cystic fibrosis
more...
Genetic disorder
(8)
Trifunctional protein deficiency
Methylmalonic acidemia
2-Methylbutyryl-CoA dehydrogenase deficiency
Acrocephal- opolysyndactyly
6-pyruvoyl- tetrahydropterin synthase deficiency
6-pyruvoyl- tetrahydropterin synthase deficiency
Short-chain acyl-CoA dehydrogenase deficiency
Sarcosinemia
Carbamoyl phosphate synthetase I deficiency
more...
Metabolic disorders
(60)
Albinism
Activated protein C resistance
Adenosine deaminase deficiency
Alcohol flush reaction
Antithrombin III deficiency
Antithrombin III deficiency
Baker IDI Heart and Diabetes Institute
Blue diaper syndrome
Childhood obesity
Congenital disorder of glycosylation
Congenital hyperinsulinism
Crigler-Najjar syndrome
Diagnostic fast
Disaccharidase
Disorders of calcium metabolism
Ectopic calcification
Farber disease
Fructose malabsorption
GM1 gangliosidoses
Galactosemia
Galactosemic cataract
Gangliosidoses gm2
Gangliosidosis
Gaucher's disease
Glycogen storage disease type 0
Hereditary fructose intolerance
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
Krabbe disease
Lactose intolerance
Lipid storage disorders
List of causes of hypoglycemia
Metab-L
Methemoglobinemia
Neuronal ceroid lipofuscinosis
Niemann-Pick disease, type C
Niemann–Pick disease
Obesity
Obesogen
Pickardt syndrome
Pycnodysostosis
Refeeding syndrome
Richner Hanhart syndrome
Rotor syndrome
Salicylate sensitivity
Schindler disease
Selfish Brain Theory
Sitosterolemia
Stress hyperglycemia
Sucrose intolerance
Tay-Sachs disease
Triosephosphate isomerase deficiency
Urbach–Wiethe disease
Urea cycle disorders
Winchester syndrome
Wolman disease
more...
Genetics
Aniridia
Medical genetics
Mutations
Genetic disorders
Hereditary disorder
EC number
Isovaleryl-CoA dehydrogenase
IVD (gene)
L-3-hydroxyacyl CoA dehydrogenase
Diseases and disorders
(47)
Inborn errors of renal tubular transport
Acanthoche- ilonemiasis
Fatty acid oxidation disorders
Agenesis of corpus callosum
Acidemia
Acidemia
Hyperammonemia
Aplasia cutis congenita
Anemia, hemolytic
Granulomatosis
Astrocytoma
Age related macular degeneration
Carnitine uptake defect
Trifunctional protein deficiency
Beta-ketothiolase deficiency
Metabolic disorders
Phenylketonuria
Methylmalonic acidemia
Argininosuccinic acidemia
Citrullinemia
Cerebrotendineous xanthomatosis
D-Glyceric acidemia
2-Hydroxyglutaric aciduria
Tyrosinemia type II
Holocarboxylase synthetase deficiency
Maple syrup urine disease
Acrocephal- opolysyndactyly
Gangliosidoses gm2
6-pyruvoyl- tetrahydropterin synthase deficiency
Biotinidase deficiency
Metabolic diseases
Tyrosinemia
Urea cycle disorders
Organic acidemia
Homocystinuria
Sarcosinemia
Hartnup disease
Carbamoyl phosphate synthetase I deficiency
Albinism
Galactosemia
Porphyria
Aniridia
Hb S
Congenital hypothyroidism
Rare diseases
Congenital adrenal hyperplasia
Acute intermittent porphyria
Cystic fibrosis
more...
See also
(20)
Isovaleryl-CoA
Acyl CoA dehydrogenase
3-methylcr- otonyl-CoA carboxylase
alopecia cicatrisata
IVD
IVD
3-Methylbutanoic acid
Acanthocytosis
Autosomal recessive
Splice site
Metabolism
Allergy shots
Autosomal dominant
Leucine
Amino acid metabolism
Metabolic acidosis
Congenital hypothyroidism
Acps
Anterior cruciate ligament
Hearing test
Idiopathic
more...
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