{'fraction_non_alphanumeric': 0.0215916101172116, 'fraction_numerical': 0.006169031462060457, 'mean_word_length': 5.3359375, 'pattern_counts': {'":': 0, '<': 0, '<?xml version=': 0, '>': 0, 'https://': 0, 'lorem ipsum': 0, 'www.': 0, 'xml': 0}, 'pii_count': 0, 'substrings_counts': 0, 'word_list_counts': {'cursed_substrings.json': 0, 'profanity_word_list.json': 0, 'sexual_word_list.json': 0, 'zh_pornsignals.json': 0}}
Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation.

A form of glycogen-storage disease characterized by low phosphorylase kinase activity has been shown by Huijing and Fernandes [1] to be transmitted from mother to son. Clinical symptoms are generally variable and include hepatomegaly, fasting hypoglycemia, and retarded growth and motor development in the early years of life. After puberty all symptoms tend to remit and adult patients are relatively asymptomatic. The disease is manifest predominantly in boys, and the affected girls (10%0) have very mild clinical symptoms. The phosphorylase kinase activity in leukocytes and erythrocytes of deficient males, when assayed at a substrate concentration close to 80%o saturation, is on the average 14% of control activity. Mothers and daughters of patients have variable phosphorylase kinase activities overlapping both normal and deficient values [1]. All these findings have suggested that the disease is attributable to a mutant gene on the X chromosome. If this form of glycogen-storage disease were indeed transmitted by an X-linked gene, then this locus should provide the opportunity to extend the observations regarding X inactivation [2] in human somatic cells. We have therefore studied the phosphorylase kinase activity in skin fibroblasts from an affected male and his mother and have found that the mutant phenotype is demonstrable in cultured cells. Moreover, the results of analysis of maternal clones are compatible with the X-linkage of the disease suggested previously on the basis of pedigree data.