• Qian Zhan, Zili Lv, Qing Tang, Li Huang, Xiuqi Chen, Meixiong Yang, Liancheng Lan, and Qingwen Shan.
• Department of Pediatrics.
• Medicine (Baltimore). 2021 Apr 23; 100 (16): e25520.

RationaleGlycogen storage disease (GSD) type VI is a rare disease caused by the inherited deficiency of liver phosphorylase.Patient ConcernsThe proband, a 61-month-old Chinese boy, manifested intermittent hematochezia, growth retardation, hepatomegaly, damage of liver function, mild hypoglycemia, and hyperlactatemia. The other patient was a 107-month-old Chinese girl with growth retardation, hepatomegaly, mild hypoglycemia, and hyperlactatemia. In order to further confirm the diagnosis, we conducted a liver biopsy and detected blood samples for their gene using IDT exon chip capture and high-throughput sequencing.DiagnosesAccording to the clinical symptoms, physical examination, laboratory examinations, liver biopsy, and the genetic test finding, the 2 patients were diagnosed GSD VI.InterventionsThey were treated mainly with uncooked cornstarch.OutcomesThere were 2 mutations of PYGL gene in this pedigree. c.2467C>T (p. Q823X) and c.2178-2A>C occurred both in the proband and his second sister.LessonsAs a novel mutation, c.2178-2A>C enriches the mutation spectrum of PYGL gene. The different degrees of elevated lactate is an unusual phenotype in GSD VI patients. It is not clear if this is caused by the new mutation of c. 2178-2A > C. Long-term complications remains to be observed.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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