[errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. ( CSP )]
UMLS (NCI) C0025521 Relation/PAR: Genetic Condition
Metabolic Disease
Relation/CHD: Adrenal Hyperplasia, Congenital
Amino Acid Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
G6PD deficiency
hereditary hyperbilirubinemia
hypophosphatasia
inborn metal metabolism disorder
Albright's hereditary osteodystrophy
purine/pyrimidine metabolism disorder
inborn lysosomal enzyme disorder
inborn lipid/lipoprotein disorder
alpha 1 antitrypsin deficiency
pyruvate kinase deficiency
inborn immunodeficiency
inborn biological transport disorder
PGK deficiency
amyloid disease
Carbohydrate Metabolism, Inborn Errors
Glucosephosphate Dehydrogenase Deficiency
hereditary hyperbilirubinemia
Dubin Johnson syndrome
Lipid Metabolism, Inborn Errors
inborn metal metabolism disorder
DIS PORPHYRIN METABOLISM
Hutchinson Gilford syndrome
purine/pyrimidine metabolism disorder
inborn renal tubular transport disorder
inborn lysosomal enzyme disorder
Brain Diseases, Metabolic, Inborn