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Diagnosis of an intermediate case of maple syrup urine disease: a case report

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs). However, the clinical and metabolic screening is limited in identifying all MSUD patients, especially those patients with mild ph...

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Main Authors: Lin, Yun-Ting, Cai, Yan-Na, Ting, Tzer Hwu, Liu, Li, Zeng, Chun-Hua, Su, Ling, Peng, Min-Zhi, Li, Xiu-Zhen
Format: Article
Published: Baishideng Publishing Group 2023
Online Access:http://psasir.upm.edu.my/id/eprint/107325/
https://www.wjgnet.com/2307-8960/full/v11/i5/1077.htm
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spelling my.upm.eprints.1073252024-10-15T06:49:39Z http://psasir.upm.edu.my/id/eprint/107325/ Diagnosis of an intermediate case of maple syrup urine disease: a case report Lin, Yun-Ting Cai, Yan-Na Ting, Tzer Hwu Liu, Li Zeng, Chun-Hua Su, Ling Peng, Min-Zhi Li, Xiu-Zhen BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs). However, the clinical and metabolic screening is limited in identifying all MSUD patients, especially those patients with mild phenotypes or are asymptomatic. This study aims to share the diagnostic experience of an intermediate MSUD case who was missed by metabolic profiling but identified by genetic analysis. CASE SUMMARY: This study reports the diagnostic process of a boy with intermediate MSUD. The proband presented with psychomotor retardation and cerebral lesions on magnetic resonance imaging scans at 8 mo of age. Preliminary clinical and metabolic profiling did not support a specific disease. However, whole exome sequencing and subsequent Sanger sequencing at 1 year and 7 mo of age identified bi-allelic pathogenic variants of the BCKDHB gene, confirming the proband as having MSUD with non-classic mild phenotypes. His clinical and laboratory data were retrospectively analyzed. According to his disease course, he was classified into an intermediate form of MSUD. His management was then changed to BCAAs restriction and metabolic monitoring conforming to MSUD. In addition, genetic counseling and prenatal diagnosis were provided to his parents. CONCLUSION: Our work provides diagnostic experience of an intermediate MSUD case, suggesting that a genetic analysis is important for ambiguous cases, and alerts clinicians to avoid missing patients with non-classic mild phenotypes of MSUD. Baishideng Publishing Group 2023-02-16 Article PeerReviewed Lin, Yun-Ting and Cai, Yan-Na and Ting, Tzer Hwu and Liu, Li and Zeng, Chun-Hua and Su, Ling and Peng, Min-Zhi and Li, Xiu-Zhen (2023) Diagnosis of an intermediate case of maple syrup urine disease: a case report. World Journal of Clinical Cases, 11 (5). pp. 1077-1085. ISSN 2307-8960 https://www.wjgnet.com/2307-8960/full/v11/i5/1077.htm 10.12998/wjcc.v11.i5.10
institution Universiti Putra Malaysia
building UPM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Putra Malaysia
content_source UPM Institutional Repository
url_provider http://psasir.upm.edu.my/
description BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs). However, the clinical and metabolic screening is limited in identifying all MSUD patients, especially those patients with mild phenotypes or are asymptomatic. This study aims to share the diagnostic experience of an intermediate MSUD case who was missed by metabolic profiling but identified by genetic analysis. CASE SUMMARY: This study reports the diagnostic process of a boy with intermediate MSUD. The proband presented with psychomotor retardation and cerebral lesions on magnetic resonance imaging scans at 8 mo of age. Preliminary clinical and metabolic profiling did not support a specific disease. However, whole exome sequencing and subsequent Sanger sequencing at 1 year and 7 mo of age identified bi-allelic pathogenic variants of the BCKDHB gene, confirming the proband as having MSUD with non-classic mild phenotypes. His clinical and laboratory data were retrospectively analyzed. According to his disease course, he was classified into an intermediate form of MSUD. His management was then changed to BCAAs restriction and metabolic monitoring conforming to MSUD. In addition, genetic counseling and prenatal diagnosis were provided to his parents. CONCLUSION: Our work provides diagnostic experience of an intermediate MSUD case, suggesting that a genetic analysis is important for ambiguous cases, and alerts clinicians to avoid missing patients with non-classic mild phenotypes of MSUD.
format Article
author Lin, Yun-Ting
Cai, Yan-Na
Ting, Tzer Hwu
Liu, Li
Zeng, Chun-Hua
Su, Ling
Peng, Min-Zhi
Li, Xiu-Zhen
spellingShingle Lin, Yun-Ting
Cai, Yan-Na
Ting, Tzer Hwu
Liu, Li
Zeng, Chun-Hua
Su, Ling
Peng, Min-Zhi
Li, Xiu-Zhen
Diagnosis of an intermediate case of maple syrup urine disease: a case report
author_facet Lin, Yun-Ting
Cai, Yan-Na
Ting, Tzer Hwu
Liu, Li
Zeng, Chun-Hua
Su, Ling
Peng, Min-Zhi
Li, Xiu-Zhen
author_sort Lin, Yun-Ting
title Diagnosis of an intermediate case of maple syrup urine disease: a case report
title_short Diagnosis of an intermediate case of maple syrup urine disease: a case report
title_full Diagnosis of an intermediate case of maple syrup urine disease: a case report
title_fullStr Diagnosis of an intermediate case of maple syrup urine disease: a case report
title_full_unstemmed Diagnosis of an intermediate case of maple syrup urine disease: a case report
title_sort diagnosis of an intermediate case of maple syrup urine disease: a case report
publisher Baishideng Publishing Group
publishDate 2023
url http://psasir.upm.edu.my/id/eprint/107325/
https://www.wjgnet.com/2307-8960/full/v11/i5/1077.htm
_version_ 1814054628565712896
score 13.211869

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