Adults with late diagnosed PKU and severe challenging behaviour.
نویسنده
چکیده
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منابع مشابه
Long-term beneficial effects of the phenylalanine-restricted diet in late-diagnosed individuals with phenylketonuria.
The potential benefits to society of treating late-diagnosed mentally retarded persons with phenylketonuria were investigated. In order to ascertain the effects of late dietary intervention, the charts of 124 adults with PKU seen in the metabolic service at the Childrens Hospital of Los Angeles were reviewed. Fifty-nine were diagnosed later than 3 months of age and were over the age of 18 years...
متن کاملReply to SP Bessman
Bessman’s historical perspective in this issue (1) provides us with an interesting summary of one side of a controversy that occurred > 20 y ago concerning a possible role for tyrosine in the mental defect of phenylketonuria (PKU) and maternal PKU. Unfortunately, his editorial confuses the difference between early-treated and late-treated PKU. The study by Hsia et al (2) was conducted in instit...
متن کاملSelective Screening of Phenylketonuria, Tyrosinemia and Maple Syrup Urine Disease in Southern Iran
Inborn errors of amino-acids metabolism and other inherited Mendeliandisorders are common in the MiddleEast.The number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques. The aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (PKU), tyrosinemia, and maple syrup ...
متن کاملGenotype and natural history in unrelated individuals with phenylketonuria and autistic behavior.
We describe three unrelated individuals, two males (ages 35 and 9) and a female (age 8) presenting with late diagnosed phenylketonuria (PKU) and autistic behavior, all showing poor adhesion to the dietary treatment resulting in high plasmatic phenylalanine levels, particularly in the oldest subject. Clinical findings included hair hypopigmentation, microcephaly, severe mental retardation with a...
متن کاملCRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model
The CRISPR/Cas9 system is a recently developed genome editing technique. In this study, we used a modified CRISPR system, which employs the fusion of inactive Cas9 (dCas9) and the FokI endonuclease (FokI-dCas9) to correct the most common variant (allele frequency 21.4%) in the phenylalanine hydroxylase (PAH) gene - c.1222C>T (p.Arg408Trp) - as an approach toward curing phenylketonuria (PKU). PK...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 80 6 شماره
صفحات -
تاریخ انتشار 2009