Publication Type:

Journal Article

Source:

Indian Journal of Pediatrics, Volume 79, Number 1, p.112-114 (2012)

URL:

http://www.scopus.com/inward/record.url?eid=2-s2.0-84857036530&partnerID=40&md5=17f274c55230dfd8b1941dd1f7eb557b

Keywords:

alkaline phosphatase, alkaline phosphatase blood level, amino acid analysis, bicarbonate, bicarbonate blood level, blood gas analysis, calcium, calcium blood level, case report, child, clinical feature, conference paper, cystinosis, diet therapy, differential diagnosis, failure to thrive, family history, Fanconi Bickel syndrome, Fanconi renotubular syndrome, female, gene, genetic analysis, Glut 2 gene, glycogen storage disease, growth retardation, hepatomegaly, homozygosity, human, hypophosphatemic rickets, indel mutation, metabolic acidosis, phosphate, phosphate blood level, phosphorus, preschool child, rare disease, supplementation, tyrosine, tyrosinemia, varus knee

Abstract:

We Present the first mutation proven case of Fanconi-Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion mutation in Glut 2 gene. © Dr. K C Chaudhuri Foundation 2011.

Notes:

cited By (since 1996)1

Cite this Research Publication

KaMohandas Nair, Sakamoto, Ob, Jagadeesh, Sc, and Nampoothiri, Sd, “Fanconi-bickel syndrome”, Indian Journal of Pediatrics, vol. 79, pp. 112-114, 2012.