Publication Type:Journal Article
Source:Indian Journal of Pediatrics, Volume 79, Number 1, p.112-114 (2012)
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
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.
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