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[Hereditary fructose intolerance].
A I Lopes1, A G Almeida, A E Costa
1Unidade de Gastrenterologia Pediátrica, Hospital de Santa Maria, Lisboa.
Acta Medica Portuguesa
|April 8, 1999
Summary
Hereditary fructose intolerance (HFI) is a rare metabolic disorder caused by aldolase B deficiency. Molecular analysis identified the common A149P mutation in a Portuguese child, aiding diagnosis for at-risk families.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Background:
- Hereditary fructose intolerance (HFI) is a rare autosomal recessive metabolic disorder.
- It stems from a deficiency in the liver, kidney, and intestine enzyme aldolase B (fructose-biphosphate aldolase).
Observation:
- A Portuguese child presented with symptoms suggestive of HFI.
- Molecular analysis was performed to investigate the genetic basis of the condition.
Findings:
- The study identified the A149P mutation in the aldolase B gene in the Portuguese child.
- This is the same mutation previously found in most European HFI patients.
Implications:
- This case represents the first molecularly confirmed HFI diagnosis in a Portuguese child.
- Molecular studies are crucial for diagnosing HFI risk patients and their families, enabling early intervention and genetic counseling.