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  • Title: [Fructose-1,6-diphosphatase deficiency. Clinical aspects and diagnosis based on a case report].
    Author: Lohrer R, Ibel H, Holzapfel P, Gerg S.
    Journal: Monatsschr Kinderheilkd; 1987 Feb; 135(2):112-3. PubMed ID: 3033476.
    Abstract:
    In a 2-year-old boy the enzyme defect of fructose-1,6-diphosphatase deficiency could be demonstrated in liver tissue, jejunal mucosa and leukocytes. During the neonatal period the boy had suffered from transient metabolic acidosis and hypoglycemia. At the age of 2 years, during a febrile infection, he developed a hyperkinetic-hypotonic syndrome, which disappeared by fructose-free diet and avoidance of prolonged periods of fasting.
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