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Phenylketonuria and Hyperphenylalaninemia
1990Untreated phenylketonuria (PKU) causes intellectual deterioration, seizures, various neuropsychiatric symptoms, defects in pigmentation, eczema, and a characteristic “musty” odor. Today, most neonates are screened for hyperphenylalaninemia, which includes PKU. The incidence of PKU is on average one in 10 000 births.
F. Güttler, H. Lou
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Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias
Expert Opinion on Drug Metabolism & Toxicology, 2013Phenylketonuria (PKU) is caused by mutation of the enzyme, phenylalanine (Phe) hydroxylase (PAH). The hyperphenylalaninemia characteristic of PKU causes devastating neurological damage if not identified and treated at birth with a Phe-restricted diet.
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MENDELIAN HYPERPHENYLALANINEMIA
Annual Review of Genetics, 1988C R, Scriver, S, Kaufman, S L, Woo
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Transient hyperphenylalaninemia
The Journal of Pediatrics, 1968S, Castells +3 more
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Phenylketonuria and Hyperphenylalaninemia
2016Phenylketonuria (PKU) is the prototype treatable genetic disorder and most advanced countries have been performing newborn screening for more than 40 years. Institution of a low-protein diet early in life can reduce the concentration of phenylalanine in the blood and the brain, and prevent the severe learning and behavioral difficulties that were ...
Francjan J. van Spronsen +1 more
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Hyperphenylalaninemia in the Philippines.
The Southeast Asian journal of tropical medicine and public health, 2005To present patients with hyperphenylalaninemia (HPA) diagnosed by routine newborn screening and to discuss the principles in managing hyperphenylalaninemia, retrospective clinical chart review was conducted. Newborn screening for phenylketonuria (PKU) was performed using the Guthrie Test or Bacterial Inhibition Assay, utilizing dried blood spots on ...
Sylvia, Capistrano-Estrada +1 more
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Guide for diagnosis and treatment of hyperphenylalaninemia
Pediatrics International, 2021Haruo Shintaku +2 more
exaly