IXa glycogenosis – diagnosis, features of clinical manifestations and treatment

IXa glycogenosis is the most common of the currently known 15 types of glycogenosis. The disease has X-linked recessive inheritance, is caused by mutations in  the PHKA2 gene localized on the short arm of X chromosome in  the Хр22.13 region. The main manifestations of the disease: stunted growth, increased liver size, episodes of hypoglycemia, fasting ketosis, increased blood levels of cholesterol, low-density lipoproteins, triglycerides, liver transaminases. In many cases, the course of the disease can be relatively mild, which complicates early diagnosis and the timely administration of therapy. Clinical observations of two children from unrelated families with the same homozygous c.884G> A mutation (р.Arg295His, or R295H) in the PHKA2 gene are presented. The similarities and differences in clinical symptoms are emphasized, and the features of patient management are presented.

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