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Fanconi-Bickel syndrome--two cases report
Norberto Sotelo1, Ramiro García, René Tostado
1Department of Pediatric Internal Medicine, Hospital Infantil del Estado de Sonora, México. norbertosotelo5@hotmail.com
Annals of Hepatology
|July 16, 2008
Summary
This study details a rare genetic disorder in siblings presenting with growth retardation, liver issues, and kidney dysfunction. Liver biopsies revealed glycogen accumulation, suggesting a metabolic defect.
Area of Science:
- Pediatric Endocrinology
- Metabolic Disorders
- Hepatology
Background:
- Investigating rare genetic conditions causing failure to thrive in children.
- Understanding the clinical spectrum of inherited metabolic diseases.
Observation:
- Two siblings presented with growth retardation, abdominal distension, doll-like faces, and hepatomegaly.
- Both exhibited phosphaturia and proximal renal tubular dysfunction.
- The elder sibling had hyperglycemia, glucosuria, and hypoinsulinemia, while the younger developed galactosemia.
Findings:
- Liver biopsy confirmed glycogen accumulation in hepatocytes for both patients.
- The clinical presentation suggests a complex inherited metabolic disorder affecting multiple organs.
- The distinct but overlapping symptoms in siblings highlight variable disease expression.
Implications:
- Suggests a potential novel glycogen storage disease or a related metabolic pathway defect.
- Highlights the importance of early diagnosis and comprehensive metabolic screening in affected families.
- Further research is needed to elucidate the specific genetic and molecular mechanisms involved.
