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We experienced a case of Glycogenosis I in eleven-year-old boy. Clinical features were growth retardation, general weakness, abdominal distension due to hepatomegaly. His bone age was retarded, and huge hepatomegaly and both renal hypertropy was seen in CAT. Latoratory findings revealed epinephrine resistant hypoglycemia, hyperuricemia, metabolic acidosis with increased anion gap and acetonuria without glycosuria. Light microscopic
findings of liver and... |
