M. A. Cleary

TL;DR: MRI changes, compatible with a disturbance in the water content of white matter, were present in all but 1 patient and the severity of abnormality was most strongly associated with the blood phenylalanine concentration at the time of imaging.

TL;DR: The MRI changes in PKU are at least partially reversible by lowering the blood phenylalanine concentration, seen primarily in those in whom phenylAlanine levels were reduced to less than 900 mumol/L.

TL;DR: It is important for paediatricians and neonatologists to keep in mind inborn errors of metabolism (IEMs) as a cause of illness in the neonatal period, as many disorders are treatable and, in most cases, successful outcome is dependent on a rapid diagnosis and early instigation of therapy.

TL;DR: Five families with trifunctional protein deficiency in which, during pregnancy, three mothers experienced significant hepatic disease when carrying an affected fetus are reported, suggesting that other defects in this enzyme complex might be responsible for maternal hepatic complications in pregnancy.

TL;DR: The relevance of the findings of neurological deterioration, neuropsychological problems and brain imaging in adults with PKU are discussed, including neurological assessments, awareness of nutritional deficiencies, educational requirements and the risks of maternal PKU.