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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.
Am J Med Genet A. 2020 07; 182(7):1608-1614.AJ

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.

Authors+Show Affiliations

Sami Ulus Children Hospital, Metabolism Unit, Ankara, Turkey.Department of Pediatrics, Metabolism Unit, Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.Medical Genetic Unit, Yuksek Ihtisas Training and Research Hospital, Bursa, Turkey.Sami Ulus Children Hospital, Intensive Care Unit, Ankara, Turkey.Department of Pediatrics, Metabolism Unit, Gazi University, Ankara, Turkey.Department of Pediatrics, Metabolism Unit, Hacettepe University, Ankara, Turkey.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

32259399

Citation

Kılıç, Mustafa, et al. "Expanding the Clinical Spectrum of Mitochondrial 3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency With Turkish Cases Harboring Novel HMGCS2 Gene Mutations and Literature Review." American Journal of Medical Genetics. Part A, vol. 182, no. 7, 2020, pp. 1608-1614.
Kılıç M, Dorum S, Topak A, et al. Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review. Am J Med Genet A. 2020;182(7):1608-1614.
Kılıç, M., Dorum, S., Topak, A., Yazıcı, M. U., Ezgu, F. S., & Coskun, T. (2020). Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review. American Journal of Medical Genetics. Part A, 182(7), 1608-1614. https://doi.org/10.1002/ajmg.a.61590
Kılıç M, et al. Expanding the Clinical Spectrum of Mitochondrial 3-hydroxy-3-methylglutaryl-CoA Synthase Deficiency With Turkish Cases Harboring Novel HMGCS2 Gene Mutations and Literature Review. Am J Med Genet A. 2020;182(7):1608-1614. PubMed PMID: 32259399.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review. AU - Kılıç,Mustafa, AU - Dorum,Sevil, AU - Topak,Ali, AU - Yazıcı,Mutlu U, AU - Ezgu,Fatih S, AU - Coskun,Turgay, Y1 - 2020/04/07/ PY - 2020/01/17/received PY - 2020/03/20/revised PY - 2020/03/24/accepted PY - 2020/4/8/pubmed PY - 2020/4/8/medline PY - 2020/4/8/entrez KW - 3-hydroxy-3-methylglutaryl-CoA synthase deficiency KW - HMG-CoA synthase deficiency KW - HMGCS2 KW - encephalopathy KW - hypoglycemia SP - 1608 EP - 1614 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 182 IS - 7 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/32259399/Expanding_the_clinical_spectrum_of_mitochondrial_3_hydroxy_3_methylglutaryl_CoA_synthase_deficiency_with_Turkish_cases_harboring_novel_HMGCS2_gene_mutations_and_literature_review_ DB - PRIME DP - Unbound Medicine ER -
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