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

YILMAZ, ÖZLEM; Kitchen, Steve; Pinto, Alex; Daly, Anne; Gerrard, Adam; Hoban, Rachel; Santa, Saikat; Sreekantam, Srividya; Frost, Kathryn; Pigott, Anna; MacDonald, Anita

doi:10.20960/nh.1329

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, Scopus)

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.