Abstract
Seven members in 5 generations of a Midwestern family suffer with a form of glycogenosis involving liver and muscle. The illness is characterized during childhood by hepatomegaly, muscle weakness, delayed puberty and growth retardation. As adults, the disabilities decrease. Metabolic studies revealed elevation of serum uric acid in 2 subjects, but no disturbance in glucose homeostasis. One adult has clinical gout.
In 7 liver biopsy specimens, an accumulation of PAS positive-diastase removable material was found. Biochemical analysis of liver specimens from 3 family members for glucose-6-phosphatase, debrancher enzyme, phosphorylase, phosphorylase kinase, glycogen synthetase and fructose-1, 6-diphosphatase, revealed no explanation for the glycogen accumulation. In all cases, glycogen structure was normal, and glycogen content increased (12-16% W/W). In 2, muscle glycogen was increased.
In this family, only males were afflicted, and the trait was passed through females, suggesting an X-linked pattern of inheritance. The previously described X-linked glycogenosis was associated with phosphorylase kinase deficiency. Since this enzyme is present in this family, a new form of X-linked glycogen storage disease is suggested.
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Keating, J., Brown, B., White, N. et al. 1141 A NEW FORM OF X-LINKED GLYCOGEN STORAGE DISEASE. Pediatr Res 15 (Suppl 4), 633 (1981). https://doi.org/10.1203/00006450-198104001-01167
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DOI: https://doi.org/10.1203/00006450-198104001-01167