Abstract
A male, newborn infant (3480g, 54cm) presented with vomiting, slightly dysmorphic facial features, and serum electrolytes compatible with adrenocortical insufficiency. Although the vomiting disappeared after hormone replacement, the infant failed to thrive. Psychomotor retardation was noted, and he gradually developed spasticity. There was “diffuse white matter disease” by cerebral computer tomography. Chromosome analysis showed normal karyotype. Metabolic screening at 6 months of age revealed by sugar chromatography a marked spot with Rf-value 1.5 compared with glucose. By gas chromatography /mass spectrometry this substance was identified as glycerol. The glycerol excretion(1.0-1.5g/24h) was unrelated to diet or drugs. The patient died 12 months old, during a respiratory tract infection. Fibroblasts for glycerol kinase determination were not obtained.Glyceroluria, with or without demonstrated glycerol kinase deficiency, is an inborn error of metabolism of unknown incidence. The phenotypic expression is variable. Screening may easily be done by urine chromatography(ethyl acetate:pyridine:H2O; 13:5:4) on paper or thin layer, and visualized by silver nitrate/acetone.
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