3‐hydroxy‐3‐methylglutaryl‐coenzyme a lyase deficiency: Report of five new patients

Summary Five new patients are reported and the pathogenesis of the hypoglycaemia without ketogenesis is discussed. This report extends a recent review.J. Inher. Metab. Dis. 9, 225–233.

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Veröffentlicht in:	Journal of inherited metabolic disease 1988-03, Vol.11 (1), p.76-87
Hauptverfasser:	Gibson, K. M., Breuer, J., Kaiser, K., Nyhan, W. L., McCoy, E. E., Ferreira, P., Greene, C. L., Blitzer, M. G., Shapira, E., Reverte, F., Conde, C., Bagnell, P., Cole, D. E. C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis - genetics Aminoacid disorders Biological and medical sciences Child Child, Preschool Errors of metabolism Female Fibroblasts - enzymology Humans Hypoglycemia - genetics Infant Ketone Bodies - biosynthesis Medical sciences Metabolic diseases Oxo-Acid-Lyases - deficiency
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Beschreibung
Zusammenfassung:	Summary Five new patients are reported and the pathogenesis of the hypoglycaemia without ketogenesis is discussed. This report extends a recent review.J. Inher. Metab. Dis. 9, 225–233.
ISSN:	0141-8955 1573-2665
DOI:	10.1007/BF01800058