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Initiation of dietary intervention after 20 years of untreated pku.
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J Neurol Neurosurg Psychiatry 2013 Nov; 84(11):e2
Authors: Briony Waddell, Mohamed Anwar, Jonathon I O'Riordan
Ninewells Hospital and Medical School, Dundee.
Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism causing accumulation of phenylalanine resulting in cognitive, behavioural and pyramidal dysfunction. The prevalence of PKU is 1 per 10,000 live births in European countries. Treatment is lifelong adherence to a low phenylalanine diet.(1) Improvement outcomes after introducing dietary restrictions in adulthood or in the re-introduction after prolonged periods of non-compliance are largely limited to subjective changes in behaviour and well-being.(2) Few case reports address the changes in motor function.(3) This case report provides further evidence for the beneficial effects of re-introducing a low phenylalanine diet in untreated adults. A 41 year old medically retired nurse was admitted to hospital with functional decline. She had a background of PKU, which had been treated with a low phenyalanine diet from birth until 16 years old at which stage her diet was discontinued. At the age of 37 years she developed progressive visual loss to 6/60 bilaterally over a 6 month period. VEPs were delayed with small amplitude bilaterally. MRI of brain demonstrated extensive white matter changes. The patient then defaulted from follow up until her current admission 3 years later when she re-presented with a 6 month history of declining mobility, generalised apathy, behavioural disturbance, and further deterioration in her vision. On examination she was orientated but unable to follow 1 stage commands consistently. She required a hoist for transfer and was wheelchair dependant. Visual acuity was reduced to finger counting bilaterally and there was bilateral optic disc pallor. Limb examination demonstrated spasticity (Ashworth scale 3 bilaterally), sustained clonus, mild pyramidal weakness, hyperreflexia and extensor planters. Initial investigations demonstrated a low folate (1.6 ug/L, normal range 3.1-17.5 ug/L). Her tyrosine was 56 umol/L with an elevated phenylalanine 1564 umol/L (120-480 umol/L), consistent with untreated PKU. She was given folate replacement and symptomatic treatment for spasticity. A low phenylalanine diet was commenced. Following normalisation of her phenylalanine (121 umol/L), there was an improvement in cognitive function, affect and behaviour. She was now able to complete an Addenbrooke's Cognitive Examination-revised (ACE-r) scoring 53/84 (she was unable to complete visual sections). Vision improved to 6/60 bilaterally. Her mild pyramidal weakness remained but her spasticity improved (Ashworth scale 1 bilaterally) and she was able to walk 40m with bilateral assistance. This case highlights the importance of consideration dietary reinstitution as part of a rehabilitation regimen in untreated adults with PKU.
PMID: 24108900 [PubMed - as supplied by publisher]