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Inborn Error of Metabolism
Inborn error of metabolism
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Topics Related to Inborn error of metabolism
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Pediatrics
GSD type III
Metab-L
Failure to thrive
Neonatal screening
Metabolism
Amino acid metabolism
Fatty acid oxidation
Metab-L
Inborn errors of metabolism
(106)
2-Methylbutyryl-CoA dehydrogenase deficiency
3 methylcrotonyl-coa carboxylase deficiency
Acatalasia
Aldolase A deficiency
Aspartylgl- ycosaminuria
Aspartylgl- ycosaminuria
BH4 deficiency
Fructose intolerance
GSD type I
GSD type II
GSD type V
Galactose-- 1-phosphate uridylyltransferase galactosemia
Galactosemia
Glycogen storage disease
Guanidinoacetate methyltransferase deficiency
Holocarboxylase synthetase deficiency
Hyperprolinemia
Lecithin cholesterol acyltransferase deficiency
Lysosomal storage disorders
Malonic aciduria
Maple syrup urine disease
Methylmalonic acidemia
Mitochondrial trifunctional protein deficiency
Non-ketotic hyperglycinemia
Phenylketonuria
Propionic acidemia
Sarcosinemia
2,4 Dienoyl-CoA reductase deficiency
3-hydroxy-- 3-methylglutaryl-CoA lyase 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
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
Citrullinemia
Congenital disorder of glycosylation
Crigler-Najjar syndrome
DOOR syndrome
Dihydropyrimidine dehydrogenase deficiency
Disaccharidase
Essential fructosuria
Fucosidosis
Fumarase deficiency
GSD type III
Glucose-galactose malabsorption
Glutaric acidemia type 2
Glutaric aciduria type 1
Hawkinsinuria
Histidinemia
Hyperlysinemia
Hypermethioninemia
Hypervalinemia
Idiosyncrasy
Inborn error of lipid metabolism
Isobutyryl-coenzyme A dehydrogenase deficiency
Isovaleric acidemia
Krabbe disease
Lesch–Nyhan syndrome
Lipid storage disorder
Lipid storage disorders
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lysinuric protein intolerance
Lysosomal storage diseases
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
Neonatal screening
Niemann-Pick disease, type C
Organic acidemia
Ornithine transcarbamylase deficiency
Ornithine translocase deficiency
Primary carnitine deficiency
Prolidase deficiency
Pyruvate carboxylase deficiency
Pyruvate kinase deficiency
Refsum's disease
Rotor syndrome
Schindler disease
Short-chain acyl-coenzyme A dehydrogenase deficiency
Sly syndrome
Smith-Lemli-Opitz syndrome
Succinic semialdehyde dehydrogenase deficiency
Tangier disease
Trimethylaminuria
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
Urea cycle disorder
Urocanic aciduria
Very long-chain acyl-coenzyme A dehydrogenase deficiency
Wolman disease
X-linked ichthyosis
Zellweger syndrome
more...
Medical condition
(40)
Hyperammonemia
Albright's hereditary osteodystrophy
African iron overload
Hyperhomoc- ysteinemia
Homocystinuria
Homocystinuria
Hydrops-ectopic calcificat- ion-moth-eaten skeletal dysplasia
Adiposis dolorosa
Aceruloplasminemia
Cystinosis
Acrodermatitis enteropathica
Ssadh deficiency
Mild mental retardation
Abetalipop- roteinemia
GSD type IV
Metachromatic leukodystrophy
Atransferrinemia
Iron overload disorder
Apparent mineralocorticoid excess syndrome
Mucopolysa- ccharidosis
Cerebrotendineous xanthomatosis
Poor feeding
6-pyruvoyl- tetrahydropterin synthase deficiency
Malonic aciduria
Phenylketonuria
Mitochondrial trifunctional protein deficiency
Galactosemia
Sarcosinemia
Hyperprolinemia
Aldolase A deficiency
GSD type II
Fructose intolerance
Galactose-- 1-phosphate uridylyltransferase galactosemia
Non-ketotic hyperglycinemia
Maple syrup urine disease
Glycogen storage disease
Acatalasia
Guanidinoacetate methyltransferase deficiency
Holocarboxylase synthetase deficiency
Aspartylgl- ycosaminuria
Methylmalonic acidemia
more...
Genetic disorder
(18)
Hypoalphal- ipoproteinemia
Galactose epimerase deficiency
Cystathioninuria
Malonic aciduria
Mitochondrial trifunctional protein deficiency
Mitochondrial trifunctional protein deficiency
Albright's hereditary osteodystrophy
African iron overload
Sarcosinemia
GSD type III
Aceruloplasminemia
GSD type IV
Galactose-- 1-phosphate uridylyltransferase galactosemia
Apparent mineralocorticoid excess syndrome
Acatalasia
2-Methylbutyryl-CoA dehydrogenase deficiency
6-pyruvoyl- tetrahydropterin synthase deficiency
Aspartylgl- ycosaminuria
Methylmalonic acidemia
more...
Rare diseases
(14)
Barraquer-Simons Syndrome
Malonic aciduria
Sarcosinemia
Propionic acidemia
Aldolase A deficiency
Aldolase A deficiency
GSD type II
Metachromatic leukodystrophy
Atransferrinemia
Maple syrup urine disease
Galactose epimerase deficiency
Guanidinoacetate methyltransferase deficiency
Neonatal screening
Aspartylgl- ycosaminuria
Methylmalonic acidemia
more...
Skin conditions resulting from errors in metabolism
Adrenoleuk- odystrophy
Apolipoprotein B deficiency
Calcinosis cutis
Lipoid proteinosis
Phenylketonuria
Cerebrotendineous xanthomatosis
Metabolic pathways
(29)
Beta oxidation
Gluconeogenesis
Pentose phosphate pathway
The citric acid cycle
Urea cycle
Urea cycle
Alanine cycle
Alpha oxidation
Alpha-aminoadipate pathway
Aminoshikimate pathway
Cori cycle
Entner–Doudoroff pathway
Glucose cycle
Glycogenesis
Glycogenolysis
Glycolysis
Glyoxylate cycle
Kynurenine pathway
Lactic acid fermentation
Mevalonate inhibition
Mevalonate pathway
Microsomal Ethanol Oxidizing System
Non-mevalonate pathway
Octadecanoid pathway
Polyol pathway
Reductive acetyl-CoA pathway
Reverse Krebs cycle
Steroid
Transsulfuration pathway
Urea Cycle
more...
Nutrition disorder
GSD type 0
Biotin deficiency
Albright's hereditary osteodystrophy
Aldolase A deficiency
GSD type IV
Iron metabolism
(31)
Hemojuvelin
Aceruloplasminemia
African iron overload
Atransferrinemia
Ceruloplasmin
Ceruloplasmin
Ferritin
Ferroportin
HFE hereditary hemochromatosis
Haemochromatosis type 3
Hemoproteins
Hemosiderin
Hemosiderosis
Hepcidin
Hephaestin
Human iron metabolism
Iron deficiency (medicine)
Iron deficiency anemia
Iron metabolism disorder
Iron overload disorder
Iron tests
Iron-binding proteins
Juvenile hemochromatosis
Neonatal hemochromatosis
Serum iron
Siderosis
TFR2
TFRC
Total iron-binding capacity
Transferrin
Transferrin receptor
Transferrin saturation
more...
Metabolic disorders
(59)
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 intolerance
Fructose malabsorption
GM1 gangliosidoses
GM2 gangliosidoses
GSD type 0
Galactosemia
Galactosemic cataract
Gangliosidosis
Gaucher's disease
Homocystinuria
Hyperglycemia
Hyperinsulinemic hypoglycemia
Hyperinsulinism
Hypoglycemia
Inborn errors of metabolism
Ketotic hypoglycemia
Krabbe disease
Lactose intolerance
Lipid storage disorders
Lipoid proteinosis
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
Sitosterolemia
Stress hyperglycemia
Sucrose intolerance
Tay-Sachs disease
Triosephosphate isomerase deficiency
Urea cycle disorder
Winchester syndrome
Wolman disease
more...
Lysosomal storage diseases
(40)
Alpha-mannosidosis
Aspartylgl- ycosaminuria
Batten disease
Canavan disease
Cholesteryl ester storage disease
Cholesteryl ester storage disease
Cystinosis
Fabry disease
Farber disease
GM1 gangliosidoses
GM2 gangliosidoses
GSD type II
Galactosialidosis
Gangliosidosis
Gaucher's disease
Glycoproteinosis
Hunter syndrome
Hurler syndrome
I-cell disease
Krabbe disease
Lipid storage disorder
Lysosomal storage disorders
Metachromatic leukodystrophy
Morquio syndrome
Mucolipidosis
Mucolipidosis type IV
Mucopolysa- ccharidosis
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...
Diseases and disorders
(13)
Syndromes
Sweat gland disease
Fructose bisphosphatase deficiency
Calcinosis
Endocrine diseases
Endocrine diseases
Urinary bladder disease
Hyperhomoc- ysteinemia
Lecithin cholesterol acyltransferase deficiency
Metachromatic leukodystrophy
Non-ketotic hyperglycinemia
Apparent mineralocorticoid excess syndrome
Failure to thrive
Cerebrotendineous xanthomatosis
more...
Autosomal recessive disorders
(249)
17-beta-hy- droxysteroid dehydrogenase deficiency
2-Hydroxyglutaric aciduria
3 methylcrotonyl-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- ycosaminuria
Atelosteogenesis, type II
Atransferrinemia
BH4 deficiency
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
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
GM2-gangliosidosis, AB variant
GSD type I
GSD type II
GSD type III
GSD type V
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 aciduria type 1
Glutathione synthetase deficiency
Griscelli syndrome
Guanidinoacetate methyltransferase deficiency
Gunther disease
Hartnup disease
Hemophagocytic lymphohistiocytosis
Hereditary pyropoikilocytosis
Hermansky–Pudlak syndrome
Histidinemia
Holocarboxylase synthetase deficiency
Homocystinuria
Hurler syndrome
Hyperlysinemia
Hypermethioninemia
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
Krabbe disease
Lafora disease
Laron syndrome
Lecithin cholesterol acyltransferase deficiency
Leukocyte adhesion deficiency
Lipid storage disorder
Lipoid congenital adrenal hyperplasia
Lipoid proteinosis
Long-chain 3-hydroxya- cyl-coenzyme A dehydrogenase deficiency
Lucey-Driscoll syndrome
Lysinuric protein intolerance
Malonic aciduria
Maple syrup urine disease
Meckel syndrome
Medium-chain acyl-coenzyme A 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- 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
Non-ketotic hyperglycinemia
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 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
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
Thalassemia
Trimethylaminuria
Triosephosphate isomerase deficiency
Type I tyrosinemia
Type III tyrosinemia
Tyrosinemia
Tyrosinemia type II
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...
See also
(20)
Diseases and disorders
Autosomal recessive
HFE1
Dystrophic calcification
Gierke
Gierke
Hyperimmun- oglobulinemia D with recurrent fever
Biochemistry
Heme M
Amino acids
Phenylalanine
X-linked recessive
Breathing stops temporarily
Enzymes
Glucose 6-phosphatase
Carnitor
Metastatic calcification
Acyl CoA dehydrogenase
Proline oxidase
Levocarnitine
Pseudopseu- dohypoparathyroidism
more...
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