Abstract
Since 1976 four unrelated patients have presented with NKH. Only one was of consanguineous parents. One presented by 8 hours of life, the others within 3 days. Findings included myotonic jerks, lethargy, hypotonia and respiratory failure. Diagnostic laboratory data are:
Other organic acid and amino acid metabolites were normal. Sodium benzoate and protein restriction were used in all four patients. Other therapy included strychnine, pyridoxine, phenobarbital and dilantin. Two died before 8 months, one before 2 years, one survives at 6 years with severe psychomotor delay. In order to have diagnosed 4 cases in 7 years in our catchment area we estimate the frequency of NKH to be about 1 in 60,000 births.
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Duncan, J., Curran, J., Malone, J. et al. NONKETOTIC HYPERGLYCINEMIA (NKH): PERHAPS NOT SO RARE. Pediatr Res 18 (Suppl 4), 301 (1984). https://doi.org/10.1203/00006450-198404001-01246
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DOI: https://doi.org/10.1203/00006450-198404001-01246