Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene

Journal Title: The Medical Bulletin of Haseki - Year 2019, Vol 57, Issue 3

Abstract

Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usually diagnosed at 6-10 months of age. Here, we present a case of Fanconi-Bickel syndrome in a patient who was diagnosed at 47 days of age with the findings of glycosuria, hyperglycemia and an elevated level of alkaline phosphatase (ALP). The diagnosis was confirmed by identification of a new mutation in SLC2A2 gene and metabolic control was provided by a galactose-restricted high protein diet. A 27-day-old female patient was admitted with glycosuria. It was observed that she did not gain enough weight, had fat cheeks and hepatomegaly. Biochemical investigations revealed transaminase and ALP elevation. Fasting plasma glucose level was normal whereas postprandial glucose level was 198 mg/dL. Urinalysis revealed 1+ protein and 3+ glucose. In follow-up, hyperglycemia started to be more evident, the ALP level decreased, compensated metabolic acidosis developed and the diagnosis of Fanconi-Bickel syndrome was assumed at 47 days of age. Under nutrition and oral replacement therapies good metabolic control and weight gain could be achieved. Postprandial hyperglycemia and glycosuria are early diagnostic clues for Fanconi-Bickel syndrome. Awareness of early findings and initiation of galactose-restricted high protein diet may provide metabolic control and prevent late complications.

Authors and Affiliations

Ezgi Çelikboya, Mehmet Şerif Cansever, Tanyel Zübarioğlu, Gözde Yeşil, Nurver Akıncı

Keywords

Related Articles

Comparison of Nutritional Screening Tools in Patients Undergoing Surgery for Gastric Cancer

Aim: Nutritional screening tools are mainly used to identify patients at risk of malnutrition. We aimed to compare commonly used nutritional tools in assessing the nutritional status of patients undergoing surgery for ga...

Relationship Between Clinical Disease Characteristics and Acute and Structural Changes in Sacroiliac Magnetic Resonance Imaging in Patients with Newly Diagnosed Axial Spondyloarthritis

Aim: The association between acute and structural lesions on magnetic resonance imaging (MRI) of the sacroiliac joint (SIJ) with clinical and laboratory features has not been fully investigated. This study aimed to compa...

Auralı Migren Hastalarında Non-spesifik Serebral Ak Madde Lezyonlarının Varlığı ve İlişkili Faktörlerin Değerlendirilmesi

Aim: Cerebral white matter hyperintensities (WMLs) are known to be observed in migraine patients but there only are a handful of studies focused on WMLs in migraine with aura (MWA). In this study, we aimed to investigate...

Is Facet Tropism an Acquired Status or is It Related with Age? MRI Study

Aim: We aimed to reveal the facet joint orientation and tropism and their relationship with age in patients without degenerative spine disease in lumbar magnetic resonance imaging (MRI) examinations. Methods: After obta...

Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene

Fanconi-Bickel syndrome is a metabolic disease caused by mutations in SCL2A2 gene. Hepatic and renal glycogen storage, fasting hypoglycemia, and renal tubular dysfunction are characteristics of the disease that is usuall...

Download PDF file
  • EP ID EP50777
  • DOI 10.4274/haseki.galenos.2018.4504
  • Views 264
  • Downloads 0

How To Cite

Ezgi Çelikboya, Mehmet Şerif Cansever, Tanyel Zübarioğlu, Gözde Yeşil, Nurver Akıncı (2019). Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene. The Medical Bulletin of Haseki, 57(3), -. https://www.europub.co.uk/articles/-A-50777