A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented wi...
A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia
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Hoboken, USA: John Wiley & Sons, Inc
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Language
English
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
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Contents
Mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency (mHS deficiency) is a rare autosomal recessive inborn error of ketogenesis caused by a mutation in the HMGCS2 gene, which is characterized by non‐(hypo)‐ketotic hypoglycemia, lethargy, and hepatomegaly during acute infection and/or prolonged fasting. Clinical presentations are similar...
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Full title
A Japanese case of mitochondrial 3‐hydroxy‐3‐methylglutaryl‐CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia
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TN_cdi_doaj_primary_oai_doaj_org_article_e4ee7a8d609845fc96c932e7c13ea715
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_e4ee7a8d609845fc96c932e7c13ea715
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ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12051
