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We report epidemiological and biochemical characteristics of non-ketotic hyperglycinaemia (NKH) in Tunisia while highlighting the difficulties encountered for its diagnosis and patients’ management.
From 1999 to 2019, 73 patients were diagnosed with NKH in Tunisa. Diagnosis was based on patient and familial history, neurological examination, neuroimaging and measurement of cerebrospinal fluid (CSF) and plasma glycine by ion exchange chromatography. Most patients originated from central Tunisia (86%), with 27 patients (37%) originating from Kairouan region. During this period, 4 014 085 live births were recorded in Tunisia, including 251 676 in Kairouan. Estimated incidence for NKH was 1:54 994 live births in Tunisia and 1:9322 live births in Kairouan. Most patients (86%) had severe phenotype. Consanguinity was found in 75% of patients and 43% of families had history of siblings who died due to a disease of similar …
Contributors MF, HS and NK designed the study. FN and SHT, performed biochemical analysis. FN and MF drafted the manuscript. ABC, IK and NT identified the cases presented, supplied the relevant clinical information and reviewed the article for accuracy. All authors revised critically the manuscript for important intellectual content, approved the final version as submitted and agree to be accountable for all aspects of the work.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Not commissioned; externally peer reviewed.
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