Cases reported "Phenylketonurias"

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1/6. Clinical and EEG video-polygraphic features of epileptic spasms in a child with dihydropteridine reductase deficiency. efficiency of hydrocortisone.

    West syndrome is an epileptic encephalopathy which includes psychomotor deterioration. In rare cases, it is due to an inherited, progressive metabolic disease. We report a 2 year-old child with dihydropteridine reductase deficiency who developed hypsarrhythmia and infantile spasms which were documented on video-polygraphic EEG. Despite dietary restriction of phenylalanine, and oral administration of amine precursors, the initial course was unfavorable. A beneficial effect from hydrocortisone was then observed, with control of spasms and improvement of psychomotor delay.
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ranking = 1
keywords = metabolic disease
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2/6. Transcultural pediatrics: compliance and outcome of phenylketonuria patients from families with an immigration background.

    Living in a foreign country with a different lifestyle and a different orientation is a many-faceted challenge for immigrants. A considerable percentage (30-50%) of patients with metabolic disease come from immigrant families from turkey and the middle east. Phenylketonuria is one example of metabolic disease in which severe mental retardation can be entirely prevented by early detection via newborn screening and consistent dietary treatment. We report 7 phenylketonuria patients from 3 Turkish families who had considerable difficulty in coping with the diagnosis and adherence to the diet. blood phenylalanine levels beyond recommended limits and IQ values below average, clearly demonstrate the risks arising from language as well as psychological and cultural communication barriers, despite standardized follow-up care structures and the observance of continuity by medical caregivers. To propose a basis for systematic improvement in the care of patients from immigrant families we suggest that a) the services of professional interpreters be used in case of language barriers; b) social workers with appropriate sociocultural and language competence should accompany the family in a professional manner; c) it would be meaningful to introduce treatment contracts that clearly establish the limits of the client's rights and duties as well as those of the care-givers. From the viewpoint of legislation, providing medical information is duty of the hospital and the use of translator is mandatory with patients from foreign countries and with foreign languages.
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ranking = 2
keywords = metabolic disease
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3/6. Chromatography for diagnosis of metabolic diseases.

    Chromatographic techniques, including computerized capillary gas chromatography-mass spectrometry and high-performance liquid chromatography with rapid scanning detection are important parts of a multicomponent analytical system designed for the diagnosis of human metabolic disorders. The usefulness of such a system is exemplified by the finding of a new case with the very rare disease hypersarcosinuria and the detection of unusual metabolites in a case of phenylketonuria.
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ranking = 4
keywords = metabolic disease
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4/6. A Chinese classic phenylketonuria manifested as autism.

    A 12-year-old Chinese boy had a diagnosis of infantile autism at infancy that was finally confirmed as classic phenylketonuria at adolescence. This treatable inborn metabolic disease should be investigated in cases of apparent autism, especially where mass neonatal screening of inborn metabolic diseases has not been established.
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ranking = 2
keywords = metabolic disease
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5/6. Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children.

    Five-hundred and fifty one mentally retarded children from seven institutes in Northern taiwan were screened by dried blood spot for the detection of treatable congenital metabolic diseases, including congenital hypothyroidism, phenylketonuria, homocystinuria, maple syrup urine disease and galactosemia. We found 2 children (0.36%) with congenital hypothyroidism, 1 case (0.18%) of classical phenylketonuria and two cases (0.36%) of trisomy 21 associated with autoimmune thyroiditis. The results of our investigation suggest that congenital hypothyroidism and phenylketonuria can be the factors causing mental retardation among children in taiwan and mass neonatal screening of these treatable inborn metabolic diseases is strongly indicated for efficiently circumventing mental retardation in our community.
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ranking = 2
keywords = metabolic disease
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6/6. parenteral nutrition in a premature infant with phenylketonuria.

    parenteral nutrition (PN) is now an important facet of the management of the extremely premature infant. However, its effects on those with inherited metabolic disease have not been well documented. We report an infant with classical phenylketonuria (PKU) who had unusually high serum phenylalanine at 12 days of life (5200 mumol; greater than 3.2 SD above our mean for PKU at 10-15 days of age) while on parenteral nutrition, despite a relatively high tolerance for phenylalanine on oral feeds at 3-4 months of life (97-128 mg/kg/day; normal for PKU: less than 90 mg/kg/day). Identification of PKU was somewhat delayed in this child because of failure to recognize that parenteral nutrition provides a phenylalanine load equivalent to or greater than the routine oral formula feeding. Despite the high levels of phenylalanine in the first 2 wk of life, mental and motor development are normal at 16 months of age. This case, the first such reported, suggests the parenteral nutrition in the premature PKU infant is relatively safe, but draws attention to the possible need for phenylalanine-free amino acid infusates for those who require long-term treatment.
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ranking = 1
keywords = metabolic disease
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