PEDBASE.org - The Pediatric Database - Detailed information of BENIGN FRUCTOSURIA

BENIGN FRUCTOSURIA

DEFINITION:

A disorder of fructose metabolism characterized by a deficiency of fructokinase activity resulting in reducing substances in the urine but no clinical manifestations.

EPIDEMIOLOGY:

incidence: 1/120,000
age of onset:
- whenever fructose-containing foods introduced into the diet
risk factors:
- familial - autosomal recessive
  - chrom.#: ?
  - gene: fructokinase

PATHOGENESIS:

1. Background

fructokinase catalyzes the conversion of fructose to fructose-1-phosphate

2. Genetic Defect

genetic defect -> fructokinase deficiency in liver, intestines, and kidneys -> body unable to metabolize ingested fructose -> fructosemia -> fructosuria

CLINICAL FEATURES:

1. Asymptomatic

condition found as an accidental finding when the patients urine tests positive for reducing substances

INVESTIGATIONS:

1. Urine

positive for reducing substance (fructosuria)
- positive Clinitest but negative Clinistix indicates that the reducing substance is not glucose
fructose identified by chromatography

MANAGEMENT:

no treatment is necessary

Pediatric Database - BENIGN FRUCTOSURIA

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