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Metabolism, Inborn Errors
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Definition
: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.
GEN: prefer specific types; differentiate from DEFICIENCY DISEASES; DF: METAB INBORN ERR
Examples
Amino Acid Metabolism, Inborn Errors
;
Amino Acid Transport Disorders, Inborn
;
Amyloidosis, Familial
;
Brain Diseases, Metabolic, Inborn
;
Carbohydrate Metabolism, Inborn Errors
;
Cytochrome-c Oxidase Deficiency
;
Hyperbilirubinemia, Hereditary
;
Lipid Metabolism, Inborn Errors
;
Lysosomal Storage Diseases
;
Metal Metabolism, Inborn Errors
;
Peroxisomal Disorders
;
Porphyrias
;
Progeria
;
Purine-Pyrimidine Metabolism, Inborn Errors
;
Renal Tubular Transport, Inborn Errors
;
Steroid Metabolism, Inborn Errors
Other names
Inborn Errors of Metabolism; Metabolisms, Inborn Errors; Metabolism Inborn Errors; Metabolism Inborn Error; Metabolism Error, Inborn; Inborn Metabolism Errors; Inborn Metabolism Error; Inborn Errors Metabolisms; Inborn Errors Metabolism; Errors, Inborn Metabolism; Errors Metabolisms, Inborn; Errors Metabolism, Inborn; Error, Inborn Metabolism; Metabolism Errors, Inborn
Substance
CAS Registry & name
Categories
Source
Adenine phosphoribosyltransferase deficiency
0
*Metabolism, Inborn Errors
*Urolithiasis
Adenine Phosphoribosyltransferase/deficiency.
Fumaric aciduria
0
*Metabolism, Inborn Errors
*Muscle Hypotonia
*Psychomotor Disorders
Fumarate Hydratase/deficiency.
Finnish lethal neonatal metabolic syndrome
0
*Acidosis, Lactic
*Renal Aminoacidurias
*Cholestasis
*Fetal Growth Retardation
*Hemosiderosis
*Metabolism, Inborn Errors.
Phenol sulfotransferase deficiency
0
*Metabolism, Inborn Errors
Arylsulfotransferase/deficiency.
Methylmalonyl-
Coenzyme A mutase deficiency
0
*Metabolism, Inborn Errors
Methylmalonyl-CoA Mutase/deficiency.
Aromatase deficiency
0
*Gynecomastia
*Infertility, Male
*Metabolism, Inborn Errors
*46, XX Disorders of Sex Development
Aromatase/deficiency.
Arakawa syndrome 1
0
*Metabolism, Inborn Errors
*Hyperhomocysteinemia
Hydroxymethyl and Formyl Transferases/deficiency.
Butyrylcholinesterase deficiency
0
*Metabolism, Inborn Errors
Butyrylcholinesterase/deficiency.
Wiedemann Oldigs Oppermann syndrome
0
*Bone Diseases, Developmental
*Hirsutism
*Intellectual Disability
*Metabolism, Inborn Errors.
Weinstein Kliman Scully syndrome
0
*Hypogonadism
*Metabolism, Inborn Errors
*Deaf-Blind Disorders.
Trimethylaminuria
0
*Metabolism, Inborn Errors
Methylamines/urine.
Congenital chloride diarrhea
0
*Diarrhea/congenital
*Metabolism, Inborn Errors.
N acetyltransferase deficiency
0
*Metabolism, Inborn Errors
Arylamine N-Acetyltransferase/deficiency.
Acetylcarnitine deficiency
0
*Metabolism, Inborn Errors
Carnitine O-Acetyltransferase/deficiency.
Deafness hyperuricemia neurologic ataxia
0
*Ataxia
*Deafness
*Metabolism, Inborn Errors.
Malonic aciduria
0
*Metabolism, Inborn Errors
Carboxy-Lyases/deficiency
Methylmalonic Acid.
Carnitine palmitoyl transferase 2 deficiency
0
*Metabolism, Inborn Errors
Carnitine O-Palmitoyltransferase/deficiency.
Copper deficiency, familial benign
0
*Hair Diseases
*Metabolism, Inborn Errors
*Dermatitis, Seborrheic
*Seizures
Copper/deficiency.
Bile acid synthesis defect, congenital, 4
0
*Cholestasis, Intrahepatic
*Metabolism, Inborn Errors.
Bile acid synthesis defect, congenital, 2
0
*Cholestasis
*Metabolism, Inborn Errors
Oxidoreductases/deficiency.
Bile acid synthesis defect, congenital, 1
0
*Cholestasis
*Metabolism, Inborn Errors.
5-
Nucleotidase syndrome
0
*Metabolism, Inborn Errors
5'-Nucleotidase/deficiency.
Costeff optic atrophy syndrome
0
*Chorea
*Metabolism, Inborn Errors
*Optic Atrophy
*Spastic Paraplegia, Hereditary.
3-
hydroxyacyl-
coa dehydrogenase deficiency
0
*Metabolism, Inborn Errors
3-Hydroxyacyl CoA Dehydrogenases/deficiency.
