Phenylketonuria and Mental Retardation An urgent need for availability of therapeutic diet at National Level
Journal Title: The Indian Practitioner - Year 2016, Vol 69, Issue 1
Abstract
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
Authors and Affiliations
U P Dave
Keywords
Related Articles
- EP ID EP554299
- DOI -
- Views 52
- Downloads 0
Malarial Hepatopathy-Experience at Tertiary Care Centre of North India
BACKGROUND: Jaundice is commonly seen in severe malaria (approx. 2.5% patients) but hepatitis is unusual. Hepatocellular dysfunction varies from mild abnormalities in liver function tests (LFTs) to hepatic failure. AIMS:...
A Study on the Effects of Vitamin C (Ascorbic Acid) on Reaction time in Healthy Young Adults
Background: Ascorbate (vitamin C) is a vital antioxidant molecule in the brain. Ascorbate is proposed as a neuromodulator of glutamatergic, dopaminergic, cholinergic and GABAergic transmission and related behaviours. Rea...
An unusual presentation of a case of primary plasma cell leukaemia in a psychotic patient with associated tuberculosis
Plasma cell leukaemia (PCL) is a rare disorder that can develop spontaneously (primary) or evolve in patients with multiple myeloma (secondary). Histogenetically, plasma cell leukaemia is derived from terminally differen...
Isolated Abducens Nerve Palsy due to Focal Patchy Inflammatory Lesion and review of the literature
Background: Convergent squint due to ‘isolated abducens nerve palsy’ (IANP) in otherwise normal patients is not often seen. Reports on natural history related to causes, time of improvement and recurrences is varied and...
Evaluating Acute Chest Pain in A Primary Care Setting
In the primary care setting, approximately 1% of all visits are for chest pain. Though heart disease is the leading cause of death globally, yet < 2.5% of patients presenting to a primary care office with chest pain will...