In:
American Journal of Medical Genetics Part A, Wiley, Vol. 182, No. 7 ( 2020-07), p. 1608-1614
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.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v182.7
DOI:
10.1002/ajmg.a.61590
Language:
English
Publisher:
Wiley
Publication Date:
2020
detail.hit.zdb_id:
1493479-6
SSG:
12
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