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. 2020 Apr 7.
doi: 10.1002/ajmg.a.61590. Online ahead of print.

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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Expanding the Clinical Spectrum of Mitochondrial 3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency With Turkish Cases Harboring Novel HMGCS2 Gene Mutations and Literature Review

Mustafa Kılıç et al. Am J Med Genet A. .

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.

Keywords: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; HMG-CoA synthase deficiency; HMGCS2; encephalopathy; hypoglycemia.

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References

REFERENCES

    1. Aledo, R., Mir, C., Dalton, R. N., Turner, C., Pié, J., Hegardt, F. G., … Champion, M. P. (2006). Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency. Journal of Inherited Metabolic Disease, 29, 207-211.
    1. Aledo, R., Zschocke, J., Pié, J., Mir, C., Fiesel, S., Mayatepek, E., … Hegardt, F. G. (2001). Genetic basis of mitochondrial HMG-CoA synthase deficiency. Human Genetics, 109, 19-23.
    1. Bouchard, L., Robert, M. F., Vinarov, D., Stanley, C. A., Thompson, G. N., Morris, A., … Mitchell, G. A. (2001). Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Clinical course and description of causal mutations in two patients. Pediatric Research, 49, 326-331.
    1. Boukaftane, Y., & Mitchell, G. A. (1997). Cloning and characterization of the human mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase gene. Gene, 195, 121-126.
    1. Conboy, E., Vairo, F., Schultz, M., Agre, K., Ridsdale, R., Deyle, D., … Lanpher, B. (2018). Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Unique presenting laboratory values and a review of biochemical and clinical features. JIMD Reports, 40, 63-69. https://doi.org/10.1007/8904_2017_59

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