Metabolism, Inborn Errors

Name	Metabolism, Inborn Errors
Synonyms	Error, Inborn Metabolism \| Errors, Inborn Metabolism \| Errors Metabolism, Inborn \| Errors Metabolisms, Inborn \| Inborn Errors Metabolism \| Inborn Errors Metabolisms \| Inborn Errors of Metabolism \| Inborn Metabolism Error \| Inborn Metabolism Errors \| Metabolism Error, Inborn \| Metabolism Errors, Inborn \| Metabolism Inborn Error \| Metabolism Inborn Errors \| Metabolisms, Inborn Errors
Definition	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
Categories	Genetic disease (inborn) \| Metabolic disease
MeSH^® ID	D008661
External Links	DO DOID:655

Top ↑ Ancestors

1.	Diseases ← Congenital, Hereditary, and Neonatal Diseases and Abnormalities ← Genetic Diseases, Inborn ← Metabolism, Inborn Errors
2.	Diseases ← Nutritional and Metabolic Diseases ← Metabolic Diseases ← Metabolism, Inborn Errors

Top ↑ Descendants

Metabolism, Inborn Errors
	3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
	3-Hydroxyacyl-CoA Dehydrogenase Deficiency
	3-Methylglutaconic Aciduria
	3-Methylglutaconic Aciduria, Type I
	3-Methylglutaconic Aciduria Type IV
	3-Methylglutaconic Aciduria, Type V
	5-Nucleotidase syndrome
	6-Phosphogluconolactonase Deficiency
	Acetylcarnitine deficiency
	Acholinesterasemia
	Acid Phosphatase Deficiency
	Adenine phosphoribosyltransferase deficiency
	alpha-Fetoprotein Deficiency
	Amino Acid Metabolism, Inborn Errors
	Amino Acid Transport Disorders, Inborn
	Amobarbital, Deficient N-Hydroxylation of
	Amyloidosis, Familial
	Arene Oxide Detoxification Defect
	Aromatase deficiency
	Aryl Hydrocarbon Hydroxylase Inducibility
	BISPHOSPHOGLYCERATE MUTASE DEFICIENCY
	Brain Diseases, Metabolic, Inborn
	Butyrylcholinesterase deficiency
	Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
	Carbohydrate Metabolism, Inborn Errors
	CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
	Carnitine Acetyltransferase Deficiency
	Carnitine palmitoyl transferase 2 deficiency
	Chromate Resistance
	Combined Malonic and Methylmalonic Aciduria
	Combined Oxidative Phosphorylation Deficiency 1
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
	Combined Oxidative Phosphorylation Deficiency 4
	Combined Oxidative Phosphorylation Deficiency 5
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9
	Congenital chloride diarrhea
	Copper deficiency, familial benign
	Costeff optic atrophy syndrome
	Coumarin Resistance
	Coumarin Sensitivity
	CREATINE PHOSPHOKINASE, ELEVATED SERUM
	Cytochrome-c Oxidase Deficiency
	Deafness hyperuricemia neurologic ataxia
	Deoxyribose-5-Phosphate Aldolase Deficiency
	Diarrhea 3, Secretory Sodium, Congenital
	Diarrhea 3, Secretory Sodium, Congenital, Syndromic
	Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency
	Dihydropyrimidinase Deficiency
	Diphenylhydantoin, Defect in Hydroxylation of
	Drug Metabolism, Poor, CYP2C19-Related
	Drug Metabolism, Poor, CYP2D6-Related
	Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
	EFAVIRENZ, POOR METABOLISM OF
	Enterokinase Deficiency
	Ethanolaminosis
	Familial gynecomastia, due to increased aromatase activity
	Finnish lethal neonatal metabolic syndrome
	Fumaric aciduria
	Glucocorticoid Receptor Deficiency
	Glutamate formiminotransferase deficiency
	Glycoprotein Storage Disease
	Glyoxalase II Deficiency
	Growth Factors, Combined Defect of
	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
	HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
	Hyaluronan Metabolism, Defect in
	Hyperbilirubinemia, Hereditary
	Hypercalcemia, Idiopathic, of Infancy
	HYPERCHLORHIDROSIS, ISOLATED
	Hypoadiponectinemia
	Hypokalemia, Familial
	Hypoproteinemia, Hypercatabolic
	Inosine Triphosphatase Deficiency
	Intrinsic Factor and R Binder, Combined Congenital Deficiency of
	Kallikrein, Decreased Urinary Activity of
	Lactate Dehydrogenase B Deficiency
	Lactic Aciduria due to D-Lactic Acid
	LEPTIN DEFICIENCY OR DYSFUNCTION
	LEPTIN RECEPTOR DEFICIENCY
	Leukotriene C4 Synthase Deficiency
	L-Gulonolactone Oxidase, Nonfunctional
	Lipid Metabolism, Inborn Errors
	LIPOYLTRANSFERASE 1 DEFICIENCY
	LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
	Lysosomal Storage Diseases
	Malonic aciduria
	Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
	Mannose-Binding Protein Deficiency
	Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
	Metal Metabolism, Inborn Errors
	Methemoglobin Reductase Deficiency
	Methylcobalamin Deficiency, CblG Type
	Methylmalonyl-Coenzyme A mutase deficiency
	Mitochondrial Complex II Deficiency
	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive
	MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
	Myeloperoxidase Deficiency
	N acetyltransferase deficiency
	Pancreatic Insufficiency, Combined Exocrine
	Peroxisomal Disorders
	Phenacetin O-Deethylase, Deficiency of
	Phenol sulfotransferase deficiency
	Phosphoglycerate Kinase 1 Deficiency
	Progeria
	Proguanil, Poor Metabolism of
	Purine-Pyrimidine Metabolism, Inborn Errors
	Renal Tubular Transport, Inborn Errors
	Retinol-Binding Protein Deficiency
	Steroid Metabolism, Inborn Errors
	Stomatocytosis I
	Stomatocytosis II
	Succinic Acidemia
	THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)
	THYROTROPIN-RELEASING HORMONE DEFICIENCY
	Transcobalamin I Deficiency
	Trimethylaminuria
	TRYPSINOGEN DEFICIENCY
	Warfarin Sensitivity
	Weinstein Kliman Scully syndrome
	Wiedemann Oldigs Oppermann syndrome
	Xanthinuria, Type I