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Neuropediatrics 1985; 16(4): 191-193
DOI: 10.1055/s-2008-1059535
© Georg Thieme Verlag KG Stuttgart · New York

Neonatal Non-Ketotic Hyperglycinemia (NKH)

Diagnoses and Management in Two CasesP.  Holmqvist , S.  Polberger
  • Department of Paediatrics, University Hospital, S-22185 Lund, Sweden
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Publikationsdatum:
19. März 2008 (online)

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Abstract

Non-ketotic hyperglycinemia (NKH) has been differentiated as an autosomal recessive hereditary form of the hyperglycinemias with a defect in the glycine-cleavage system causing accumulation of glycine in all body fluids. A more severe neonatal form with early onset has been described and, though not curable, a fast and correct diagnosis for clinical management, parental information and genetic counselling is important. The clinical picture and diagnostic chemical analyses in two cases of the more severe neonatal form of NKH are reported.

Key words

Non-ketotic hyperglycinemia (NKH) - Neonatal metabolic disorders - Diagnostic problems