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

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). Metho...

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Autores principales: Yamada, Kenji, Yokoyama, Kazunori, Aoki, Kikumaro, Taketani, Takeshi, Yamaguchi, Seiji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569964/
https://www.ncbi.nlm.nih.gov/pubmed/33239586
http://dx.doi.org/10.3390/ijns6030060
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author Yamada, Kenji
Yokoyama, Kazunori
Aoki, Kikumaro
Taketani, Takeshi
Yamaguchi, Seiji
author_facet Yamada, Kenji
Yokoyama, Kazunori
Aoki, Kikumaro
Taketani, Takeshi
Yamaguchi, Seiji
author_sort Yamada, Kenji
collection PubMed
description 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.
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spelling pubmed-75699642020-10-29 Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening Yamada, Kenji Yokoyama, Kazunori Aoki, Kikumaro Taketani, Takeshi Yamaguchi, Seiji Int J Neonatal Screen Article 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. MDPI 2020-07-30 /pmc/articles/PMC7569964/ /pubmed/33239586 http://dx.doi.org/10.3390/ijns6030060 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Yamada, Kenji
Yokoyama, Kazunori
Aoki, Kikumaro
Taketani, Takeshi
Yamaguchi, Seiji
Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
title Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
title_full Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
title_fullStr Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
title_full_unstemmed Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
title_short Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening
title_sort long-term outcomes of adult patients with homocystinuria before and after newborn screening
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7569964/
https://www.ncbi.nlm.nih.gov/pubmed/33239586
http://dx.doi.org/10.3390/ijns6030060
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