3-hydroxy-3-methylglutaryl-CoA lyase deficiency: a case report and literature review

YILMAZ Ö., Kitchen S., Pinto A., Daly A., Gerrard A., Hoban R., ...More

NUTRICION HOSPITALARIA, vol.35, no.1, pp.237-244, 2018 (SCI-Expanded) identifier

  • Publication Type: Article / Review
  • Volume: 35 Issue: 1
  • Publication Date: 2018
  • Doi Number: 10.20960/nh.1329
  • Journal Name: NUTRICION HOSPITALARIA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.237-244
  • Hacettepe University Affiliated: Yes

Abstract

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.