Expanding the clinical spectrum of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review
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...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2020-07, Vol.182 (7), p.1608-1614 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Kılıç, Mustafa Dorum, Sevil Topak, Ali Yazıcı, Mutlu U. Ezgu, Fatih S. Coskun, Turgay |
| description | 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. |
| doi_str_mv | 10.1002/ajmg.a.61590 |
| format | Article |
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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. 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Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2020-07</date><risdate>2020</risdate><volume>182</volume><issue>7</issue><spage>1608</spage><epage>1614</epage><pages>1608-1614</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><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. 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| subjects | 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency Acidosis Acidosis - genetics Adolescent Child, Preschool Encephalopathy Fatty liver Female Hepatomegaly - genetics HMGCS2 HMG‐CoA synthase deficiency Humans Hydroxymethylglutaryl-CoA Synthase - deficiency Hydroxymethylglutaryl-CoA Synthase - genetics Hypoglycemia Hypoglycemia - etiology Hypoglycemia - genetics Infant Lactic acidosis Lethargy - etiology Literature reviews Male Metabolic acidosis Metabolism Metabolism, Inborn Errors - etiology Metabolism, Inborn Errors - genetics Mitochondria Mitochondrial Diseases - etiology Mitochondrial Diseases - genetics Mutation Rare diseases Turkey |
| title | Expanding the clinical spectrum of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review |
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