Non-Ketotic Hyperglycinaemia: A Frequent, But Poorly Diagnosed And Managed Genetic Disorder In Tunisia

We report epidemiological and biochemical characteristics of non-ketotic hyperglycinaemia (NKH) in Tunisia while highlighting the difficulties encountered for its diagnosis and patients’ management.\n\nFrom 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 …