# EFFECT OF ORAL URIDINE IN CLASSICAL GALACTOSEMIA

> **NIH NIH R01** · CHILDREN'S HOSPITAL OF LOS ANGELES · 1994 · $234,149

## Abstract

This study seeks to determine if the administration of oral uridine to
patients with classical galactosemia, at a dosage of 150 mg/kg/day, as an
adjunct to treatment with conventional lactose restriction, will improve
the long term outcome and biochemical alterations seen in this disorder.
Two groups of patients will be treated between 3 and 13 years of age.
Forty patients will be matched by age and sex and one subject from each
pair will be randomly assigned to the treatment or placebo group.  In
addition, 10 children under one year of age will be treated with oral
uridine as soon after birth as possible.

To assess whether uridine treatment improves neuropsychologic,
neurologic,communicative and ovarian function, specific tests able to
delineate subtle change in these areas will be serially performed over the
5 year study period.  Erythrocyte uridine diphosphate galactose (UDPGal)
will be followed to insure that uridine therapy improves UDPGal
production.  Erythrocyte galactose-1-phosphate (Gal 1-P) will be measured
and it is anticipated that uridine will not increase Gal-1-P levels.

Biochemical studies will be performed to determine the activities of
UDPGal  and uridine diphosphate glucose pyrophosphorylase(s) and to
differentiate through which intermediates UDPGal is increased in response
to uridine intervention.  Specific galactolipid and galactoprotein
compounds will be analyzed to determine how UDPGal deficiency and uridine
treatment affect the synthesis of complex galactose containing
macromolecules.  Specific galactose-1-phosphate uridyltransferase gene
mutations will be determined and correlated with the clinical and
biochemical response to uridine treatment.

## Key facts

- **NIH application ID:** 2199923
- **Project number:** 5R01HD026401-05
- **Recipient organization:** CHILDREN'S HOSPITAL OF LOS ANGELES
- **SAM.gov UEI:** DVL1CMRMWRN9
- **Principal Investigator:** FRANCINE R. KAUFMAN
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1994
- **Award amount:** $234,149
- **Award type:** 5
- **Project period:** 1990-02-01 → 1995-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/2199923

## Citation

> US National Institutes of Health, RePORTER application 2199923, EFFECT OF ORAL URIDINE IN CLASSICAL GALACTOSEMIA (5R01HD026401-05). Retrieved via MORVS 2026-10-24 from https://api.morvs.ai/grant/nih/2199923. Licensed CC0.

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