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, sa.1, ss.237-244, 2018 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 35 Sayı: 1
  • Basım Tarihi: 2018
  • Doi Numarası: 10.20960/nh.1329
  • Dergi Adı: NUTRICION HOSPITALARIA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.237-244
  • Hacettepe Üniversitesi Adresli: Evet

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.