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

Ozlem Yilmaz, Steve Kitchen, Alex Pinto, Anne Daly, Adam Gerrard, Rachel Hoban, Saikat Santra, Srividya Sreekantam, Kathryn Frost, Anna Pigott, Anita Macdonald

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 management, fasting times and outcome.

Palabras Clave: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency, leucine, protein, hypoglycemia, metabolic acidosis

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