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. 2020 Jul 30;6(3):60.
doi: 10.3390/ijns6030060.

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

Kenji Yamada  1 , Kazunori Yokoyama  2 , Kikumaro Aoki  2 , Takeshi Taketani  1 , Seiji Yamaguchi  1
Affiliations

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening

Kenji Yamada et al. Int J Neonatal Screen. .

Abstract

Background: Homocystinuria (HCU) is a rare inherited metabolic disease. In Japan, newborn screening (NBS) for HCU (cystathionine β-synthase deficiency) was initiated in 1977. We compared the outcomes between patients detected by NBS (NBS group) and clinically detected patients (non-NBS group).

Methods: We administered questionnaires about clinical symptoms and social conditions to 16 attending physicians of 19 adult HCU patients treated with methionine-free formula.

Results: Eighteen patients (nine patients each in the NBS and non-NBS groups) participated. The frequency of patients with ocular, vascular, central nervous system, and skeletal symptoms in the NBS group was lower than that in the non-NBS group. Intellectual disability was observed in one and eight patients in the NBS and non-NBS groups, respectively. Concerning their social conditions, all patients in the NBS group were employed or still attending school, while only two patients in the non-NBS group were employed. Three of the four patients who discontinued treatment presented some symptoms, even in the NBS group.

Conclusion: The social and intellectual outcomes of adult Japanese patients with HCU detected by NBS were favorable. However, even in the patients in the NBS group, some symptoms might not be preventable without continuous treatment.

Keywords: cystathionine β-synthase deficiency; homocystinuria; long-term outcome; methionine; newborn screening; social outcome; vitamin B6.

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Conflict of interest statement

The authors declare that there are no conflicts of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

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References

    1. Carson N.A., Neill D.W. Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland. Arch. Dis. Child. 1962;37:505–513. doi: 10.1136/adc.37.195.505. - DOI - PMC - PubMed
    1. Gerritsen T., Vaughn J.G., Waisman H.A. The identification of homocystine in the urine. Biochem. Biophys. Res. Commun. 1962;9:493–496. doi: 10.1016/0006-291X(62)90114-6. - DOI - PubMed
    1. Mudd S.H., Finkelstein J.D., Irreverre F., Laster L. Homocystinuria: An enzymatic defect. Science. 1964;143:1443–1445. doi: 10.1126/science.143.3613.1443. - DOI - PubMed
    1. Morris A.A., Kozich V., Santra S., Andria G., Ben-Omran T.I., Chakrapani A.B., Crushell E., Henderson M.J., Hochuli M., Huemer M., et al. Chapman, Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J. Inherit. Metab. Dis. 2017;40:49–74. doi: 10.1007/s10545-016-9979-0. - DOI - PMC - PubMed
    1. Sacharow S.J., Picker J.D., Levy H.L. Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency. In: Adam M.P., Ardinger H.H., Pagon R.A., Wallace S.E., Bean L.J.H., Stephens K., Amemiya A., editors. GeneReviews®. University of Washington; Seattle, WA, USA: 2004. - PubMed