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., ...Daha Fazla

NUTRICION HOSPITALARIA, cilt.35, ss.237-244, 2018 (SCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 35 Konu: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.20960/nh.1329
  • Dergi Adı: NUTRICION HOSPITALARIA
  • Sayfa Sayıları: ss.237-244

Özet

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.