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| CASE REPORT |
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| Year : 2018 | Volume
: 64
| Issue : 3 | Page : 180-182 |
Novel fructose bisphosphatase 1 gene mutation presenting as recurrent episodes of vomiting in an Indian child
AG Sharma, SK Kanwal, V Chhapola, V Kumar
Department of Pediatrics, Lady Hardinge Medical College and Kalawati Saran Children Hospital, New Delhi, India
Correspondence Address:
A G Sharma
Department of Pediatrics, Lady Hardinge Medical College and Kalawati Saran Children Hospital, New Delhi
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jpgm.JPGM_216_17
Fructose-1, 6-bisphosphatase 1 (FBP1) deficiency is an autosomal recessive disorder of gluconeogenesis resulting in severe and recurrent life-threatening episodes of hypoglycemia and lactic acidosis in infancy. We report a 16 month-old girl who presented with recurrent episodes of vomiting, rapid breathing, lactic acidosis, hyperuricemia, and hypertriglyceridemia. Genetic analysis revealed a novel compound heterozygous mutation in FBP1 gene confirming the diagnosis of FBP1 deficiency. The patient was managed with treatment of acute episodes and preventive long-term dietary modifications. Long-term prognosis of FBP1 deficiency is excellent underlining the importance of early recognition of clinical signs, prompt diagnosis, and avoidance of fasting in this disease. FBP1 gene mutations have been described from various ethnic backgrounds, but there is limited data available from Indian population, hence the importance of this case.
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