title: [Fructose-1,6-diphosphatase deficiency. Clinical aspects and diagnosis based on a case report].
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.
mesh_terms: D000138:Acidosis / Q000201:enzymology*; D000641:Ammonia / Q000097:blood*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology*; D005632:Fructose / Q000008:administration & dosage; D005633:Fructose Intolerance / Q000201:enzymology* / Q000235:genetics; D015319:Fructose-1,6-Diphosphatase Deficiency; D006801:Humans; D007003:Hypoglycemia / Q000201:enzymology*; D007223:Infant; D008297:Male
chemical_list: D005632:Fructose; D000641:Ammonia
vernacular_title: Fruktose-1,6-Diphosphatasemangel. Klinik und Diagnosestellung anhand eines Fallbeispieles.