Ontology highlight
ABSTRACT:
SUBMITTER: Tendi EA
PROVIDER: S-EPMC8879487 | biostudies-literature | 2022 Feb
REPOSITORIES: biostudies-literature
Tendi Elisabetta Anna EA Guarnaccia Maria M Morello Giovanna G Cavallaro Sebastiano S
Journal of clinical medicine 20220218 4
Hyperphenylalaninemia (HPA), the most common amino acid metabolism disorder, is caused by defects in enzymes involved in phenylalanine metabolism, with the consequent accumulation of phenylalanine and its secondary metabolites in body fluids and tissues. Clinical manifestations of HPA include mental retardation, and its early diagnosis with timely treatment can improve the prognosis of affected patients. Due to the genetic complexity and heterogeneity of HPA, high-throughput molecular technologi ...[more]