Health / Medical Topics |
Congenital Metabolic Disorder
Definition 1
A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. (NCI Thesaurus)
Definition 2
Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (NLM, Medical Subject Headings)
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