3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency: A Case Report And Literature Review
Date
2018Author
Yılmaz, Özlem
Kitchen, Steve
Pinto, Alex
Daly, Anne
Gerrard, Adam
Hoban, Rachel
Santa, Saikat
Sreekantam, Srividya
Frost, Kathryn
Pigott, Anna
MacDonald, Anita
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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. Case report: We report a 2 year old girl with HMG-CoA-lyase deficiency who had limited fasting tolerance on a low protein diet, with several recurrent hospital admissions with severe hypoketotic hypoglycaemia and metabolic acidosis. We also review the dietary management and outcome of other reported cases in the literature. Discussion: In order to define optimal dietary treatment, it is important to collect higher numbers of case studies with detailed dietary manage ment, fasting times and outcome.