enzyme deficiency
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- 25-hydroxyvitamin D3 deficiency (pseudovitamin D3 deficiency rickets)
- acatalasemia (acatalasia)
- adiponectin deficiency
- aminoacylase-1 deficiency
- AMP deaminase deficiency
- biotinidase deficiency (BTD deficiency); late-onset multiple carboxylase deficiency
- Brunner syndrome
- caspase-8 deficiency
- complement C1s deficiency
- congenital bile acid synthesis defect
- cortisone reductase deficiency
- cytochrome C oxidase deficiency; mitochondrial complex IV deficiency; COX deficiency
- D-bifunctional protein deficiency (DBPD)
- dihydropyrimidine dehydrogenase deficiency; hereditary thymine-uraciluria; familial pyrimidinemia
- dimethylglycine dehydrogenase deficiency (DMGDH deficiency, DMGDHD)
- disaccharidase deficiency
- dopamine-beta hydroxylase deficiency (DBH deficiency); norepinephrine deficiency
- enterokinase deficiency; enteropeptidase deficiency
- familial hypophosphatasia
- familial tumoral calcinosis
- Farber disease (Farber lipogranulomatosis)
- ficolin-3 deficiency
- GABA aminotransaminase deficiency (GABA-AT deficiency)
- globoid leukodystrophy; Krabbe's leukodystrophy; galactosylceramide beta-galactosidase deficiency; galactosylceramidase deficiency
- glucose-6-phosphate dehydrogenase [G6PD] deficiency; chronic non-spherocytic hemolytic anemia (CNSHA)
- glutamine deficiency
- glutathione reductase deficiency
- hydroxykynureninuria; xanthurenic aciduria; kynureninase deficiency
- inborn error of metabolism
- IRAK4 deficiency
- isovaleric acidemia; isovaleryl-CoA dehydrogenase deficiency
- L-arginine:glycine amidinotransferase deficiency (AGAT deficiency)
- Lesch-Nyhan syndrome; hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency
- lipoprotein lipase deficiency
- lysosomal beta-mannosidosis
- methylcobalamin deficiency
- methylenetetrahydrofolate reductase deficiency
- mitochondrial complex III deficiency
- monocarboxylate transporter 8 deficiency (MCT8 deficiency)
- myopathy with lactic acidosis & sideroblastic anemia; mitochondrial myopathy & sideroblastic anemia (MLASA)
- N-acetylglutamate synthase deficiency
- NADH dehydrogenase deficiency (complex 1 mitochondrial respiratory chain deficiency)
- nucleoside phosphorylase deficiency (NP deficiency)
- oculocutaneous albinism type 1 (tyrosinase negative oculocutaneous albinism)
- ornithine hyperammonemia; ornithine carbamoyltransferase deficiency
- Parkes-Weber syndrome
- phosphoenolpyruvate carboxykinase deficiency
- plasminogen deficiency
- prolidase deficiency
- propionic acidemia
- protein C deficiency
- pyrimidine 5' nucleotidase deficiency hemolytic anemia; P5N deficiency
- pyruvate decarboxylase E1 component deficiency (PDHE1 deficiency)
- Quebec platelet disorder
- sucrase-isomaltase deficiency (disaccharide intolerance 1)
- thiopurine S-methyltransferase deficiency (TPMT deficiency)
- total iodide organification defect; genetic defect in thyroid hormonogenesis 2A; thyroid hormone organification defect 2
- trifunctional protein deficiency (TFP deficiency)
- very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency)