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“Hypotyrosinemia” in Phenylketonuria
Molecular Genetics and Metabolism, 2000It has been postulated that the significant incidence of learning disabilities in well-treated patients with phenylketonuria (PKU) may be due, in part, to reduced production of neurotransmitters as a result of deficient tyrosine transport across the neuronal cell membrane.
Joe T.R. Clarke +7 more
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Phenylketonuria and the brain.
Molecular Genetics and Metabolism, 2023V. Rovelli, N. Longo
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Molecular Genetics and Metabolism, 2011
The same basic principles are used to deliver dietary treatment in PKU that was developed sixty years ago. Dietary treatment is undoubtedly very successful, but it has gradually evolved and been guided commonly by individual experience and expert opinion only.
François Feillet +3 more
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The same basic principles are used to deliver dietary treatment in PKU that was developed sixty years ago. Dietary treatment is undoubtedly very successful, but it has gradually evolved and been guided commonly by individual experience and expert opinion only.
François Feillet +3 more
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Pegvaliase: a novel treatment option for adults with phenylketonuria
Current Medical Research and Opinion, 2018Objective: In May 2018, the US Food and Drug Administration approved pegvaliase-pqpz (Palynziq*), the first enzyme substitution therapy for the treatment of phenylketonuria (PKU).
K. Mahan, Mona A. Gandhi, Sridhar Anand
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Acta Paediatrica, 1997
Parent or self‐reported history of fractures in a group of patients aged from 0.3 to 33.6 years on dietary treatment for phenylketonuria was studied by means of a questionnaire. Twenty‐one of 85 patients had a history of fracture compared with 18/98 sibling controls.
Greeves Lg +3 more
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Parent or self‐reported history of fractures in a group of patients aged from 0.3 to 33.6 years on dietary treatment for phenylketonuria was studied by means of a questionnaire. Twenty‐one of 85 patients had a history of fracture compared with 18/98 sibling controls.
Greeves Lg +3 more
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Phenylketonuria and Scleroderma
Archives of Dermatology, 1978Two mentally retarded siblings, one with severe segmental scleroderma and the other with atrophoderma of Pasini and Pierini, were found at the ages of 6 and 10 years to have phenylketonuria (PKU). The belief that a common pathomechanism exists between morphea and atrophoderma of Pasini and Pierini is supported by the case of the two siblings. Disorders
Daniel Beaff +4 more
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Stress and quality of life in parents of children with phenylketonuria.
Journal of Child and Adolescent Psychiatric Nursing, 2018BACKGROUND Phenylketonuria is a hereditary disease caused by the lack or deficiency of phenylalanine hydroxylase enzyme activity. Parents of children with phenylketonuria undergo significant stress during their childcare years.
F. Irannejad +2 more
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Developmental Medicine & Child Neurology, 1961
SUMMARYPhenylketonuria causes grave intellectual and neurological deterioration unless treated with a diet low in phenylalanine. To be fully effective this treatment must be started within a few weeks of birth, before any clinical signs appear. The urine of all babies should be tested for phenylpyruvic acid so that, in affected infants, treatment can ...
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SUMMARYPhenylketonuria causes grave intellectual and neurological deterioration unless treated with a diet low in phenylalanine. To be fully effective this treatment must be started within a few weeks of birth, before any clinical signs appear. The urine of all babies should be tested for phenylpyruvic acid so that, in affected infants, treatment can ...
openaire +3 more sources