Affiliation: | 1. https://orcid.org/0000-0002-1401-5233;2. Sami Ulus Children Hospital, Metabolism Unit, Ankara, Turkey;3. Mustafa K?l??, Sami Ulus Children Hospital, Metabolism Unit, Ankara, Turkey, Babur cad. No: 44, 06080 Alt?nda?/Ankara, Turkey.;4. Department of Pediatrics, Metabolism Unit, Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey;5. Medical Genetic Unit, Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey;6. Sami Ulus Children Hospital, Intensive Care Unit, Ankara, Turkey;7. Department of Pediatrics, Metabolism Unit, Gazi University, Ankara, Turkey;8. Department of Pediatrics, Metabolism Unit, Hacettepe University, Ankara, Turkey |
Abstract: | Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase (mHS) deficiency is a very rare autosomal recessive inborn error of ketone body synthesis and presents with hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopathy, and hepatomegaly with fatty liver precipitated by catabolic stress. We report acute presentation of two patients from unrelated two families with novel homozygous c.862C>T and c.725‐2A>C mutations, respectively, in HMGCS2 gene. Affected patients had severe hypoketotic hypoglycemia, lethargy, encephalopathy, severe metabolic and lactic acidosis and hepatomegaly after infections. Surprisingly, molecular screening of the second family showed more affected patients without clinical findings. These cases expand the clinic spectrum of this extremely rare disease. |