Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis-Reference-Cited by-同舟云学术

Fructose-1,6-bisphosphatase deficiency caused by a novel homozygous Alu element insertion in the FBP1 gene and delayed diagnosis

Published:2017-05-24 Issue:6 Volume:30 Page:703-706
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
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Author:

Ramakrishna Somashekara Hosaagrahara,Patil Siddaramappa Jagdish,Jagadish Anusha Aladakatte,Sapare Anil Kumar,Sagar Hiremath,Kannan Subramanian

Abstract

AbstractFructose-1,6-bisphosphatase (FBPase) enzyme deficiency is one of the treatable autosomal recessive inherited metabolic disorders. If diagnosed early, FBPase deficiency has a favorable prognosis. We report the clinical and biochemical findings of a 9.5-year-old female child with FBPase deficiency. FBPase deficiency is caused by a homozygousArthrobacter luteus (Alu)insertion in theFBP1gene, reported for the first time.

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2017-0078/pdf

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