3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency: A Case Report and Literature Review | Zendy

Özlem Yılmaz | Zendy; Steve Kitchen | Zendy; Alex Pinto | Zendy; Anne Daly | Zendy; Adam Gerrard | Zendy; Rachel Hoban | Zendy; Saikat Santra | Zendy; Srividya Sreekantam | Zendy; Kathryn Frost | Zendy; Anna J Pigott | Zendy; Anita MacDonald | Zendy

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3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency: A Case Report and Literature Review

Author(s) -

Özlem Yılmaz,

Steve Kitchen,

Alex Pinto,

Anne Daly,

Adam Gerrard,

Rachel Hoban,

Saikat Santra,

Srividya Sreekantam,

Kathryn Frost,

Anna J Pigott,

Anita MacDonald

Publication year - 2018

Publication title -

nutrición hospitalaria

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.31

H-Index - 53

eISSN - 1699-5198

pISSN - 0212-1611

DOI - 10.20960/nh.1329

Subject(s) - ketonuria , medicine , hypoglycemia , ketosis , metabolic acidosis , vomiting , dietary management , pediatrics , lyase , metabolic disorder , acidosis , endocrinology , diabetes mellitus , biology , biochemistry , enzyme

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.

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