Fructose-1, 6-diphosphatase Deficiency Presenting as Glycogen Storage Disease
Journal Title: Journal of Medical Science And clinical Research - Year 2016, Vol 4, Issue 1
Abstract
Six year male child presentedwith hypoglycaemia and metabolic acidosis having history of recurrent episodes of hypoglycemic convulsions and more than ten hospital admissions for similar complaints. First episode occurred on day second of life with refusal to feed, respiratory distress, hypoglycemia and metabolic acidosis. Based on the examination and investigations results at that time, Glycogen Storage Disorder (GSD) was suspected. Treatment and management for the same was started. Various investigations done during remission period were normal except elevated blood lactate. At 6 years index case had episode of hypoketotic hypoglycaemia with metabolic acidosis. Considering this presentation GSD was ruled out. Fatty acid oxidation disorder was suspected and metabolic work up done which was normal. During current episode advanced metabolic investigations–urinary gas chromatography –mass spectrometry analysis revealed increased excretion of lactate, glycerol-3-phsphate and glycerol suggesting Fructose 1, 6- diphosphatase deficiency (FDPD). Management for FDPD was started immediately and was monitored closely. In last 3 years the child has not a single episode and is attending normal school. Therefore, it is important to subject the child to advance and comprehensive metabolic investigation such as urinary GC-MS profiling as soon as possible in such cases. The timing for collection of sample is key in many such disorders as the metabolic abnormality might not show up during remission and hence the blood & urine sample collection during the episode is of utmost importance to arrive at a diagnosis. An accurate diagnosis through timely collection of sample, advanced metabolomics techniques and targeted management regime can go a long way in determining the outcome and prognosis in such cases.
Authors and Affiliations
Dr Vrushali S. Joshi
Keywords
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