NUTRICION HOSPITALARIA, vol.35, no.1, pp.237-244, 2018 (SCI-Expanded)
Article / Review
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Hacettepe University Affiliated:
Introduction: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. Few cases are reported in the literature, and optimal dietary management and long term outcome are not fully understood.