Phenylketonuria and Mental Retardation an Urgent Need for Availability of Therapeutic Diet at National Level

PKU is an autosomal recessive inborn error of amino acid metabolism (IEM) and the classic PKU disorder is characterised by a deficiency in phenylalanine hydroxylase (PAH) enzyme which is responsible for intellectual disability in this condition. In PKU patients, severe neurological and functional deficits can be prevented by early detection at neonatal level and strict nutritional treatment aimed at reducing blood Phenylalanine to non-toxic levels through a PKU diet. The outcome for patients with PKU treated from the first weeks of life is generally excellent with normal developmental milestones and good performance in schools. Significant clinical, psychological and neurocognitive abnormalities are observed in untreated patients and in those non-compliant with PKU.

New advances and challenges are constantly being explored in the nutritional management of PKU. Long term dietary guidance and monitoring of the nutritional status of patients with PKU should be a part of follow-up programme that continues for life. Paediatricians, geneticists and dieticians should prescribe and carefully monitor macronutrient and micronutrient intake, growth and physical activity in PKU patients. Despite the new advances and strategies, dietary treatment remains the main stay of PKU therapy. Issues and challenges for PKU screening, diagnosis and management are discussed with emphasis on hurdles in availability of special PKU medical food and urgency for local special diet in India. A need of national programme to cover rural&urban Indian population to tackle the diet issues and to maintain 'Registry for PKU' patients is the need of today.

This review article on therapeutic aspects and diet in Phenylketonuria (PKU) covers the information on the PKU disorder, clinical manifestations, pathophysiology, genetics of PKU, therapy concept and various modalities used so far in the development of therapies as well as the global and Indian scenario with regard to PKU diet and its management.