Article
Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency.
European journal of medical genetics - 1 Dec 2020
Rojnueangnit Kitiwan, Maneechai Parisa, Thaweekul Patcharapa, Piriyanon Punnapat, Khositseth Sookkasem, Ittiwut Chupong, Chetruengchai Wanna, Kamolvisit Wuttichart, Theerapanon Thanakorn, Suphapeetiporn Kanya, Porntaveetus Thantrira, Shotelersuk Vorasuk
Abstract excerpt
Mitochondrial 3-hydroxy-3 methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) is a rare autosomal recessive inborn error of hepatic ketogenesis, caused by mutations in HMGCS2. As its clinical and laboratory manifestations resemble many other metabolic disorders, HMGCS2D definite diagnosis presents a challenge, frequently requiring molecular tests. Only 26 patients with HMGCS2 mutations have been previously...
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