Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations

In this study, we report an asymptomatic adult with mHPA who had never taken any medical intervention to control or lower her serum phenylalanine level (Phe). She had 179 μmol/L serum phenylalanine level and carried p.[V230A];[V230I] genotype. Her child was affected with phenylketonuria and had p.[V230A];[V230A] g enotype. Both pathogenic variants detected in the asymptomatic adult with mHPA were computationally analyzed to assess their pathogenicity and the p.V230I pathogenic variant was demonstrated to be responsible for the mHPA phenotype in the asymptomatic adult detected in this study. The findings in th is study could contribute to genetic counseling and treatment for families and individuals with p.[V2030I];[V230A] genotype.
Source: Clinical Case Reports - Category: General Medicine Authors: Tags: CASE REPORT Source Type: research