Journal
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
Volume 7, Issue 2, Pages -Publisher
MDPI
DOI: 10.3390/ijns7020021
Keywords
phenylketonuria; newborn screening; long-term outcome; adult patients; Japanese; intellectual disability; psychiatric disability; treatment discontinuation
Categories
Funding
- AMED [JP16ek0109050, JP19ek0109276, JP20ek0109482]
- JSPS KAKENHI [19K08300, 19K08347]
- Grants-in-Aid for Scientific Research [19K08347, 19K08300] Funding Source: KAKEN
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The study on Japanese PKU patients revealed that the neurological outcomes are significantly improved by the NBS system in Japan, but some patients may still develop neuropsychiatric symptoms due to treatment disruption. Lifelong and strict management is essential for maintaining good prognosis for patients with PKU, even those detected by the NBS.
Japanese newborn screening (NBS) for phenylketonuria (PKU) was initiated in 1977. We surveyed the neurological outcomes of Japanese adult patients with PKU to investigate the long-term effects and of and issues with NBS. Eighty-five patients with PKU aged over 19 years who continued to be treated with a phenylalanine-free amino acid formula were investigated by administering questionnaires regarding clinical characteristics, such as mental ability, education status, and therapeutic condition. Of the 85 subjects, 68 patients were detected by NBS (NBS group), while the other 17 were clinically diagnosed before the initiation of NBS (pre-NBS group). Further, 10 of the 68 NBS patients presented intellectual and/or psychiatric disabilities, 5 of whom had a history of treatment discontinuation; in contrast, 12 of the 17 pre-NBS patients presented with neuropsychiatric symptoms. Regarding social outcomes, almost all patients in the NBS group could live an independent life, while over half of the patients in the pre-NBS group were not employed or lived in nursing-care facilities. Neurological outcomes are obviously improved by NBS in Japan. However, some patients, even those detected by NBS, developed neuropsychiatric symptoms due to treatment disruption. Lifelong and strict management is essential to maintain good neurological and social prognoses for patients with PKU.
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