An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria.

ABSTRACT:

Background

Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. The maternal phenylketonuria syndrome is caused by high blood phenylalanine concentrations during pregnancy and presents with serious foetal anomalies, especially congenital heart disease, microcephaly and mental retardation.

Case presentation

We report on an affected Albanian woman and her seven children. The mother is affected by phenylketonuria and is a compound heterozygote for two pathogenetic mutations, L48S and P281L. The diagnosis was only made in the context of her children, all of whom have at least one severe organic malformation. The first child, 17 years old, has a double-chambered right v

SUBMITTER: Knerr I 

PROVIDER: S-EPMC1079877 | biostudies-literature | 2005 Apr

REPOSITORIES: biostudies-literature