Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients.

Fahmi NasrallahSameh Hadj-TaiebAmel Ben ChehidaAwatef JelassiSana Ben MassouedManel CharfiWiem ZidiFethi AmriKhaled Ben HelelHoussain MejaoualHassen SebouiNabiha MahdhaouiAbdellatif GargouriKamel MonastiriIlhem TurkiMyriam CheourHaifa SanhajiNeji TebibMoncef FekiNaziha Kaabachi

Published in: Neuropediatrics (2020)

NKH is quite frequent in Tunisia. Kairouan region has the highest NKH incidence rate, worldwide. However, due to lack of confirmatory enzymatic and genetic tests, NKH diagnosis was based on first-line biochemical tests. Characterization of causal mutations is needed for accurate diagnosis and prenatal diagnosis of this devastating life-threatening disease.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
high resolution
risk factors
genome wide
hydrogen peroxide
copy number
mass spectrometry