Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review
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Hong‐Hua Jiang
und
Fei Zhao
Abstract
Objectives
To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature.
Methods
Clinical data of a case of a newborn with MSUD was retrospectively studied. Literatures on MSUD in the local medical journals from January 1990 till December 2019 in China were reviewed.
Results
Two novel BCKDHB mutations c.90_91insCTGGCGCGGGG (p.Phe35TrpfsTer41) and c.80_90del (p.Ala32PhefsTer48) were identified. We found a total of 52 cases of MSUD reports so far. A total of 49 cases had the symptom of poor feeding (94.2%), 50 cases showed poor responses to stimulation (96.2%), 21 cases had odor of maple syrup (40.3%), 29 cases had seizures (55.7%), and 13 cases had respiratory failure (25.0%). The average of the blood ammonia was 127.2 ± 75.0 μmol/L. A total of 18 cases reported the gene testing, among of them 9 cases of BCKDHA mutations, 6 cases of BCKDHB mutations, and 2 cases of DBT mutations. A total of 13 cases (25%) were treated with mechanical ventilation, 50 cases (96.2%) with protein-restricted diet and l-carnitine, 29 cases with thiamine, and only 2 cases were treated with blood purification. Finally, 19 patients (36.5%) were died, 21 cases (40.4%) were improved after treatments.
Conclusions
The clinical phenotype of neonatal MSUD in China belongs to the classical type currently. Suspected patients should have blood or urine branched-chain amino acid levels tested and brain MRI as early as possible to enable early diagnosis, thus improvement in prognosis.
Acknowledgments
Our heartfelt thanks go to all doctors and nurses in the Department of Neonatology of Nanjing Children’s Hospital for the cooperation during the patient’s hospitalization. The authors are grateful to the patient and their parents for their contribution to the study. We would like to thank Kangso (Beijing) Medical Laboratory for technical support.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The local Institutional Review Board deemed the study exempt from review.
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© 2021 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Review Article
- Effects of aerobic exercise on obese children with metabolic syndrome: a systematic review and meta-analysis
- Original Articles
- Evaluation of clinical, endocrine and metabolic findings in obese children with and without hepatosteatosis
- Anxiety, depression, and glycemic control during Covid-19 pandemic in youths with type 1 diabetes
- Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country
- Hereditary hypophosphatemic rickets and craniosynostosis
- Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants
- The presentation of congenital adrenal hyperplasia in an unscreened population
- Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999–2018) in the absence of newborn screening in Sri Lanka
- Diagnostic re-evaluation and predictors of congenital hypothyroidism with eutopic thyroid gland in Jiangxi, China
- Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review
- The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency
- Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience
- Short Communication
- Growth hormone treatment and bone mineral density in pediatric patients with Prader–Willi syndrome
- Case Reports
- SLC35A2-CDG: novel variants with two ends of the spectrum
- Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency
- Neurological and gastrointestinal symptoms as an initial presentation of pediatric thyroid storm: report of three cases
- Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia
- MAN1B1-CDG: novel patients and novel variant
Artikel in diesem Heft
- Frontmatter
- Review Article
- Effects of aerobic exercise on obese children with metabolic syndrome: a systematic review and meta-analysis
- Original Articles
- Evaluation of clinical, endocrine and metabolic findings in obese children with and without hepatosteatosis
- Anxiety, depression, and glycemic control during Covid-19 pandemic in youths with type 1 diabetes
- Monogenic diabetes in Pakistani infants and children: challenges in a resource poor country
- Hereditary hypophosphatemic rickets and craniosynostosis
- Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants
- The presentation of congenital adrenal hyperplasia in an unscreened population
- Presenting status of children with classical congenital adrenal hyperplasia over two decades (1999–2018) in the absence of newborn screening in Sri Lanka
- Diagnostic re-evaluation and predictors of congenital hypothyroidism with eutopic thyroid gland in Jiangxi, China
- Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review
- The treatment and clinical follow-up outcome in Iranian patients with tetrahydrobiopterin deficiency
- Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: a single center experience
- Short Communication
- Growth hormone treatment and bone mineral density in pediatric patients with Prader–Willi syndrome
- Case Reports
- SLC35A2-CDG: novel variants with two ends of the spectrum
- Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency
- Neurological and gastrointestinal symptoms as an initial presentation of pediatric thyroid storm: report of three cases
- Rapid molecular diagnosis of ALB gene variants prevents unnecessary interventions in familial dysalbuminemic hyperthyroxinemia
- MAN1B1-CDG: novel patients and novel variant
