A Novel Mutation in Fanconi Bickel Syndrome Diagnosed in the Neonatal Period

Özet

Fanconi Bickel Syndrome (FBS), also known as glycogen storage disease Type XI, is a rare autosomal recessive disorder. This syndrome hasmany different identified mutations and it is rarely diagnosed during the neonatal period. Our patient is a two-week old female newborn whowas admitted to our hospital with fever and dehydration. Renal Fanconi Syndrome was diagnosed in the presence of polyuria, proteinuria,glycosuria, hyperchloremic metabolic acidosis with normal anion gap and positive urine anion gap, hyperuricemia, hypophosphatemia andan increased excretion of phosphorus in urine. A novel mutation, IVS8 homozygote g.24401-24406del6 in the GLUT2 gene was demonstratedby the Sanger method. The same mutation was detected as heterozygote in her parents. Although most of the affected infants have aconsanguineous parentage history in the literature, our patient was born to non-consanguineous parents. Also, according to our knowledge,few FBS patients were diagnosed in the newborn period. Our patient was diagnosed with a novel mutation in her first month of life.