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Non‐ketotic hyperglycinaemia in a family with an unusual phenotype
Author(s) -
Ando T.,
Nyhan W. L.,
Bicknell Joan,
Harris Ruth,
Stern J.
Publication year - 1978
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01805677
Subject(s) - glycine , serine , mentally retarded , medicine , labelling , endocrinology , chemistry , biochemistry , psychology , amino acid , developmental psychology , enzyme
A 10‐year‐old girl, one of three affected sisters, with non‐ketotic hyperglycinaemia is described. In contrast to other reported cases, the course of the disorder was comparatively mild in this family. The only clinical signs were mental retardation and abnormalities in the EEG; blood glycine levels were 2–3 times normal. In the propositus, the formation of 14 CO 2 from glycine‐1‐ 14 C and of FH 4 14 CH 2 OH from glycine‐2‐ 14 C were impaired, shown by the decreased 14 CO 2 content of expired air and diminished labelling of carbon 3 of serine. However, the biochemical defect was no less than that seen in patients with much more severe clinical effects.