Inborn errors of metabolism (106)

• 2-Methylbutyryl-CoA dehydrogenase deficiency
• 3 methylcrotonyl-coa carboxylase deficiency
• 3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
• Argininosuccinic aciduria
• Beta-ketothiolase deficiency

• Beta-ketothiolase deficiency
• Carbamoyl phosphate synthetase I deficiency
• Citrullinemia
• Galactosemia
• Glutaric acidemia type 1
• Hawkinsinuria
• Hypermethioninemia
• Isobutyryl-CoA dehydrogenase deficiency
• Isovaleric acidemia
• LCHAD
• Maple syrup urine disease
• Medium chain acyl CoA dehydrogenase deficiency
• Metabolic diseases
• Methylmalonic acidemia
• N-acetylglutamate synthase deficiency
• Newborn screening
• Ornithine transcarbamylase deficiency
• Phenylketonuria
• Propionic acidemia
• Sarcosinemia
• Short-chain acyl-CoA dehydrogenase deficiency
• Tetrahydrobiopterin deficiency
• Trifunctional protein deficiency
• Trimethylaminuria
• Type I tyrosinemia
• Type III tyrosinemia
• Tyrosinemia type II
• Urea cycle disorders
• Urocanic aciduria
• 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
• Aspartylgl- ucosaminuria
• 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
• 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
• Hereditary fructose intolerance
• Histidinemia
• Holocarboxylase synthetase deficiency
• Hyperlysinemia
• Hyperprolinemia
• Hypervalinemia
• Idiosyncrasy
• Inborn error of lipid metabolism
• 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
• Niemann-Pick disease, type C
• Organic acidemia
• Ornithine translocase deficiency
• Primary carnitine deficiency
• Prolidase deficiency
• Pyruvate carboxylase deficiency
• Pyruvate kinase deficiency
• Refsum's disease
• Rotor syndrome
• Schindler disease
• Sly syndrome
• Smith-Lemli-Opitz syndrome
• Succinic semialdehyde dehydrogenase deficiency
• Tangier disease
• Wolman disease
• X-linked ichthyosis
• Zellweger syndrome

• more...

Autosomal recessive disorders (250)

• 2-Hydroxyglutaric aciduria
• Alkaptonuria
• Homocystinuria
• Ochronosis
• Richner Hanhart syndrome

• Richner Hanhart syndrome
• 17-beta-hy- droxysteroid dehydrogenase deficiency
• 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
• Alpha-mannosidosis
• Antley-Bixler syndrome
• Argininemia
• Argininosuccinic aciduria
• 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
• Biotinidase deficiency
• 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
• Citrullinemia
• Cockayne syndrome
• Compound heterozygosity
• Congenital adrenal hyperplasia
• 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 1
• Glutaric acidemia type 2
• 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
• Isovaleric acidemia
• Jervell and Lange-Nielsen syndrome
• Johanson-Blizzard syndrome
• Juvenile Primary Lateral Sclerosis
• Kaufman oculocerebrofacial syndrome
• 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
• 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 carnitine deficiency
• Primary ciliary dyskinesia
• Progressive external ophthalmoplegia
• Prolidase deficiency
• Propionic acidemia
• 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
• 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
• Sickle-cell disease
• 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 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 (41)

• 6-pyruvoyl- tetrahydropterin synthase deficiency
• Treacher Collins syndrome
• Hereditary disorder
• Autosomal recessive disorders
• Type I tyrosinemia

• Type I tyrosinemia
• Type III tyrosinemia
• Tyrosinemia type II
• Richner Hanhart syndrome
• Hawkinsinuria
• Isobutyryl-CoA dehydrogenase deficiency
• 3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
• 2-Methylbutyryl-CoA dehydrogenase deficiency
• 3 methylcrotonyl-coa carboxylase deficiency
• 2-Hydroxyglutaric aciduria
• Methylmalonic acidemia
• Glutaric acidemia type 1
• Trifunctional protein deficiency
• Phenylketonuria
• Isovaleric acidemia
• Urocanic aciduria
• Citrullinemia
• Alkaptonuria
• Propionic acidemia
• Maple syrup urine disease
• Very-long-chain acyl-CoA dehydrogenase deficiency
• Beta-ketothiolase deficiency
• Hypermethioninemia
• Short-chain acyl-CoA dehydrogenase deficiency
• LCHAD
• N-acetylglutamate synthase deficiency
• Sarcosinemia
• Carbamoyl phosphate synthetase I deficiency
• Medium chain acyl CoA dehydrogenase deficiency
• Galactosemia
• Homocystinuria
• Tetrahydrobiopterin deficiency
• Trimethylaminuria
• Urea cycle disorders
• Ochronosis
• Argininosuccinic aciduria
• Ornithine transcarbamylase deficiency

• more...

Aromatic amino acids

• Phenylalanine
• Tyrosine
• D-DOPA
• Tryptophan

Metabolic disorders (60)

• Activated protein C resistance
• Adenosine deaminase deficiency
• Albinism
• 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
• GM2 gangliosidoses
• Galactosemia
• Galactosemic cataract
• 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...

Metabolism

• Amino acid metabolism
• Catabolism
• Metabolites
• Metabolic diseases
• Metabolic disorders