Inborn errors of metabolism

• Lysosomal storage diseases (40)

  • Cystinosis
  • Globoid cell leukodystrophy
  • Lipid metabolism, inborn errors
  • Metachromatic leukodystrophy
  • Mucopolysa- ccharidoses
  • Mucopolysa- ccharidoses
  • Alpha-mannosidosis
  • Aspartylgl- ucosaminuria
  • Batten disease
  • Canavan disease
  • Cholesteryl ester storage disease
  • Fabry disease
  • Farber disease
  • GM1 gangliosidoses
  • GM2 gangliosidoses
  • Galactosialidosis
  • Gangliosidosis
  • Gaucher's disease
  • Glycogen storage disease type II
  • Glycoproteinosis
  • Hunter syndrome
  • Hurler syndrome
  • I-cell disease
  • Lysosomal storage disease
  • Morquio syndrome
  • Mucolipidosis
  • Mucolipidosis type IV
  • Multiple sulfatase deficiency
  • Neuronal ceroid lipofuscinosis
  • Niemann-Pick disease, type C
  • Niemann–Pick disease
  • Pseudo-Hurler polydystrophy
  • Pycnodysostosis
  • Salla disease
  • Sandhoff disease
  • Sanfilippo syndrome
  • Schindler disease
  • Sialidosis
  • Sly syndrome
  • Tay-Sachs disease
  • Wolman disease
  • more...

• Inborn error of metabolism

  • Pseudohypo- parathyroidism
  • Albright's hereditary osteodystrophy
  • 2-Hydroxyglutaric aciduria
  • Biotin deficiency

• Metabolic disorders (58)

  • Fructose intolerance
  • Galactosemia
  • Homocystinuria
  • Ketotic hypoglycemia
  • Sitosterolemia
  • Sitosterolemia
  • Urea cycle disorders
  • Activated protein C resistance
  • Adenosine deaminase deficiency
  • Albinism
  • Alcohol flush reaction
  • 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
  • Galactosemic cataract
  • Gangliosidosis
  • Gaucher's disease
  • Globoid cell leukodystrophy
  • Glycogen storage disease type 0
  • Hyperglycemia
  • Hyperinsulinemic hypoglycemia
  • Hyperinsulinism
  • Hypoglycemia
  • 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
  • Pickardt syndrome
  • Pycnodysostosis
  • Refeeding syndrome
  • Richner Hanhart syndrome
  • Rotor syndrome
  • Salicylate sensitivity
  • Schindler disease
  • Selfish Brain Theory
  • Stress hyperglycemia
  • Sucrose intolerance
  • Tay-Sachs disease
  • Triosephosphate isomerase deficiency
  • Urbach–Wiethe disease
  • Winchester syndrome
  • Wolman disease
  • more...

• Pediatrics

  • Infantile polyarteritis
  • Neonatal screening
  • Infantile reflexes

• Metabolism

  • Amino acid metabolism
  • Iron metabolism
  • Carbohydrate metabolism, inborn errors
  • Bilirubin metabolism
  • Metal metabolism
  • Metabolic disorders

• Rare diseases (15)

  • Methylmalonic acidemia
  • Hartnup disease
  • Maple syrup urine disease
  • Menkes disease
  • Isovaleric acidemia
  • Isovaleric acidemia
  • Propionic acidemia
  • Argininosuccinic aciduria
  • Hypophosphatasia
  • GAMT deficiency
  • Fucosidosis
  • Neonatal screening
  • Lipid metabolism, inborn errors
  • 2-Hydroxyglutaric aciduria
  • Globoid cell leukodystrophy
  • Metachromatic leukodystrophy
  • more...

• Skin conditions resulting from errors in metabolism

  • Alkaptonuria
  • Citrullinemia
  • Hyperpheny- lalaninemia
  • Calcinosis cutis
  • Hartnup disease
  • Sitosterolemia
  • Fucosidosis

• Genodermatoses

  • Incontinentia pigmenti achromians
  • Acrodermatitis enteropathica
  • Albright's hereditary osteodystrophy

• Kidney diseases

  • Aminoaciduria
  • Milk-alkali syndrome
  • Adenine phosphorib- osyltransferase deficiency

• Nutritional deficiencies (21)

  • Protein-energy malnutrition
  • Pyridoxine deficiency
  • Acrodermatitis enteropathica
  • Ariboflavinosis
  • Beriberi
  • Beriberi
  • Biotin deficiency
  • Boron deficiency (medicine)
  • Essential fatty acid deficiency
  • Folate deficiency
  • Iodine deficiency
  • Iron deficiency (medicine)
  • Kashin-Beck disease
  • Kwashiorkor
  • Marasmus
  • Pellagra
  • Scurvy
  • Selenium deficiency
  • Vitamin A deficiency
  • Vitamin B12 deficiency
  • Vitamin K deficiency
  • Zinc deficiency
  • more...

• Diseases and disorders (12)

  • Peroxisomal disorders
  • Primary hyperoxaluria
  • MPS VI
  • Catabolysis
  • Metabolic disorders
  • Metabolic disorders
  • Aminoaciduria
  • Lipid metabolism, inborn errors
  • Milk-alkali syndrome
  • Pseudohypo- parathyroidism
  • Fucosidosis
  • Globoid cell leukodystrophy
  • Metachromatic leukodystrophy
  • more...

• Inborn errors of metabolism (107)

  • 3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
  • Aciduria
  • Glutaric aciduria type 1
  • Inborn errors of lipid metabolism
  • Medium chain acyl CoA dehydrogenase deficiency
  • Medium chain acyl CoA dehydrogenase deficiency
  • Ornithine transcarbamylase deficiency
  • Smith-lemli-opitz syndrome
  • Tetrahydrobiopterin deficiency
  • Tyrosinemia
  • 2,4 Dienoyl-CoA reductase deficiency
  • 2-Methylbutyryl-CoA dehydrogenase deficiency
  • 3-Methylcr- otonyl-CoA carboxylase 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 aciduria
  • Aspartylgl- ucosaminuria
  • Beta-ketothiolase deficiency
  • Carbamoyl phosphate synthetase I deficiency
  • Carnitine deficiency
  • Carnitine palmitoylt- ransferase I deficiency
  • Carnitine palmitoylt- ransferase II deficiency
  • 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
  • Fructose intolerance
  • Fucosidosis
  • Fumarase deficiency
  • GAMT deficiency
  • Galactose-- 1-phosphate uridylyltransferase galactosemia
  • Galactosemia
  • Globoid cell leukodystrophy
  • Glucose-galactose malabsorption
  • Glutaric acidemia type 2
  • Glycogen storage disease type I
  • Glycogen storage disease type II
  • Glycogen storage disease type III
  • Glycogen storage disease type V
  • Glycogen storage diseases
  • Hawkinsinuria
  • Histidinemia
  • Holocarboxylase synthetase deficiency
  • Hyperlysinemia
  • Hypermethioninemia
  • Hyperpheny- lalaninemia
  • Hyperprolinemia
  • Hypervalinemia
  • Idiosyncrasy
  • Inborn error of metabolism
  • Isobutyryl-coenzyme A dehydrogenase deficiency
  • Isovaleric acidemia
  • Lecithin cholesterol acyltransferase deficiency
  • Lesch–Nyhan syndrome
  • Lipid metabolism, inborn errors
  • Lipid storage disorders
  • 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
  • Menkes disease
  • Metab-L
  • Methylmalonic acidemia
  • Methylmalonyl-CoA mutase deficiency
  • Mevalonate kinase deficiency
  • Mitochondrial trifunctional protein deficiency
  • Myoadenylate deaminase deficiency
  • N-Acetylglutamate synthase deficiency
  • Neonatal screening
  • Niemann-Pick disease, type C
  • Ornithine translocase deficiency
  • 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
  • Succinic semialdehyde dehydrogenase deficiency
  • Tangier disease
  • Trimethylaminuria
  • Type I tyrosinemia
  • Type III tyrosinemia
  • Tyrosinemia type II
  • Urea cycle disorders
  • Urocanic aciduria
  • Very long-chain acyl-coenzyme A dehydrogenase deficiency
  • Wolman disease
  • X-linked ichthyosis
  • Zellweger syndrome
  • more...

• Genetic disorders (40)

  • Autosomal recessive disorders
  • Mitochondrial diseases
  • Biotinidase deficiency
  • Cystinuria
  • Mitochondrial disorders
  • Mitochondrial disorders
  • Methylmalonic acidemia
  • Urea cycle disorders
  • Ornithine transcarbamylase deficiency
  • Alkaptonuria
  • Tyrosinemia
  • Genetic Diseases, Inborn
  • Lipid metabolism, inborn errors
  • Hartnup disease
  • Maple syrup urine disease
  • Galactosemia
  • Citrullinemia
  • Acrodermatitis enteropathica
  • Isovaleric acidemia
  • Medium chain acyl CoA dehydrogenase deficiency
  • Hyperpheny- lalaninemia
  • Propionic acidemia
  • Fructose intolerance
  • Aciduria
  • Argininosuccinic aciduria
  • Hypophosphatasia
  • Homocystinuria
  • Glutaric aciduria type 1
  • Albright's hereditary osteodystrophy
  • Mucopolysa- ccharidoses
  • Tetrahydrobiopterin deficiency
  • Carnitine deficiency
  • 2-Hydroxyglutaric aciduria
  • Cystinosis
  • GAMT deficiency
  • 3-hydroxy-- 3-methylglutaryl-CoA lyase deficiency
  • Fucosidosis
  • Globoid cell leukodystrophy
  • Adenine phosphorib- osyltransferase deficiency
  • Smith-lemli-opitz syndrome
  • Metachromatic leukodystrophy
  • more...

• Autosomal recessive disorders (249)

  • 17-beta-hy- droxysteroid dehydrogenase deficiency
  • 2-Hydroxyglutaric aciduria
  • 3-Methylcr- otonyl-CoA carboxylase deficiency
  • Abdallat Davis Farrage syndrome
  • Abderhalde- n-Kaufmann-Lignac 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 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 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
  • Friedreich's ataxia
  • Fucosidosis
  • Fumarase deficiency
  • GAMT 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
  • Globoid cell leukodystrophy
  • Glucose-galactose malabsorption
  • Glutaric acidemia type 2
  • Glutaric aciduria type 1
  • 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
  • Gunther disease
  • Hartnup disease
  • Hemophagocytic lymphohistiocytosis
  • Hereditary pyropoikilocytosis
  • Hermansky–Pudlak syndrome
  • Histidinemia
  • Holocarboxylase synthetase deficiency
  • Homocystinuria
  • Hurler syndrome
  • Hyperlysinemia
  • Hypermethioninemia
  • Hyperpheny- lalaninemia
  • Hyperprolinemia
  • Hypertryptophanemia
  • Hypervalinemia
  • ICF syndrome
  • Ichthyosis lamellaris
  • Iminoglycinuria
  • Impossible syndrome
  • Infantile free sialic acid storage disease
  • Infantile neuroaxonal dystrophy
  • Isobutyryl-coenzyme A dehydrogenase deficiency
  • Isovaleric acidemia
  • Jervell and Lange-Nielsen syndrome
  • Johanson-Blizzard syndrome
  • Juvenile Primary Lateral Sclerosis
  • Kaufman oculocerebrofacial syndrome
  • Keutel syndrome
  • Kindler syndrome
  • Lafora disease
  • Laron syndrome
  • Lecithin cholesterol acyltransferase deficiency
  • Leukocyte adhesion deficiency
  • Lipid metabolism, inborn errors
  • Lipoid congenital adrenal hyperplasia
  • Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
  • 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
  • Mitochondrial trifunctional protein deficiency
  • Morquio syndrome
  • Mucolipidosis
  • Mucolipidosis type IV
  • Mucopolysa- ccharidoses
  • 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
  • Phosphofructokinase 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
  • 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
  • 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
  • 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-coenzyme A 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...

• Medical condition (49)

  • CMV infectious mononucleosis
  • Insuloma
  • Intestinal lipodystrophy
  • Hyperammonemia
  • Acidaemia
  • Acidaemia
  • Calciphylaxis
  • Avitaminosis
  • Hyperlipidemias
  • Peroxisomal disorders
  • Methylmalonic acidemia
  • Lysosomal storage diseases
  • Urea cycle disorders
  • Infantile polyarteritis
  • Ornithine transcarbamylase deficiency
  • Alkaptonuria
  • Tyrosinemia
  • Incontinentia pigmenti achromians
  • Aminoaciduria
  • Hartnup disease
  • Maple syrup urine disease
  • Galactosemia
  • Citrullinemia
  • Acrodermatitis enteropathica
  • Menkes disease
  • Milk-alkali syndrome
  • Hyperpheny- lalaninemia
  • Fructose intolerance
  • Mitochondrial diseases
  • Biotinidase deficiency
  • Aciduria
  • Argininosuccinic aciduria
  • Hypophosphatasia
  • Pyridoxine deficiency
  • Cystinuria
  • Homocystinuria
  • Pseudohypo- parathyroidism
  • Albright's hereditary osteodystrophy
  • Sitosterolemia
  • Mucopolysa- ccharidoses
  • Hypervitaminosis a
  • Carnitine deficiency
  • Glycogen storage diseases
  • 2-Hydroxyglutaric aciduria
  • Cystinosis
  • GAMT deficiency
  • Fucosidosis
  • Globoid cell leukodystrophy
  • Adenine phosphorib- osyltransferase deficiency
  • Metachromatic leukodystrophy
  • more...

• See also (20)

  • Insect sting allergy
  • Congenital disorders
  • Genetic disorders
  • Urea cycle
  • J. Inherit. Metab. Dis.
  • J. Inherit. Metab. Dis.
  • Genetic Diseases, Inborn
  • Biochemical genetics
  • Ferroportin
  • Increased head circumference
  • Hypermagnesemia
  • Obesity hypoventilation syndrome
  • Acyl CoA dehydrogenase
  • Hypervitaminosis D
  • Duodenal cytochrome B
  • Iron responsive element binding protein
  • Mobilferrin
  • DMT1
  • SLC30A1
  • TMC8
  • SLC39A4
  • more...

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