Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
S PierronC Acquaviva

Abstract

3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. HMG-CoA lyase deficiency can lead, in particular circumstances, such as fever, prolonged fasting or digestive disorders, to brutal and severe hypoglycemia with metabolic acidosis and sometimes fatal coma. We report on a new case of 3-hydroxy-3-methylglutaric aciduria particular by its late onset in a 3-year-old patient. Molecular investigation identified two new sequence modifications in the HMGCL gene: c.494G>A (p.Arg165Gln) and c.820G>A (p.Gly274Arg). We remind about this case report that the therapeutical is mainly preventive and allows a very good prognosis for this disease. Long-term treatment consists in limited fasting time, continuous low protein diet and l-carnitine supplementation. Preventive measures are essential: prevention of fasting and emergency treatment during intercurrent infections.

References

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Citations

Jan 6, 2015·Molecular and Cellular Biochemistry·Mariana Dos Santos MelloCarmen Regla Vargas
Mar 5, 2017·Italian Journal of Pediatrics·Juan Ignacio Muñoz-BonetJosé Luis León Guijarro
Dec 24, 2020·Endocrinología, Diabetes Y Nutrición·Juan Adrián Torres-DíazRaúl Alberto Jiménez-Castillo

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