Outcomes of siblings with classical galactosemia.
OBJECTIVE
To determine the long-term outcome of dietary intervention in siblings from 14 Irish families with classical galactosemia (McKusick 230400), an autosomal recessive disorder of carbohydrate metabolism and galactose-1-phosphate uridyltransferase (GALT) deficiency.


METHODS
Outcomes in siblings on dietary galactose restriction were studied to evaluate whether birth order (ie, time of commencement of diet) and compliance with lactose-restricted diet (galactose intake > or < 20 mg /day), assessed by dietary recall and biochemical monitoring of galactose-1-phosphate [Gal-1-P] and galactitol values, affected outcomes. The outcome variables assessed were IQ, speech, and language assessment scores, neurologic examination results, and magnetic resonance imaging (MRI) of the brain.


RESULTS
There was a high incidence of complications in the overall group, particularly speech and language delay (77%) and low IQ (71%). There was no significant difference in outcome between earlier-treated and later-treated siblings or any correlation with mean Gal-1-P or galactitol values. In most cases, cerebral white matter disease was evident on MRI scanning, with evidence of progressive cerebellar degeneration seen in 2 highly compliant families.


CONCLUSIONS
The subjects with a higher galactose intake did not exhibit an increased incidence of complications; conversely, those who were very compliant with dietary restrictions did not have more favorable outcomes.
Hughes
Joanne
J
National Centre for Inherited Metabolic Disorders, Children's University Hospital, Dublin, Ireland.
Ryan
Stephanie
S
Lambert
Deborah
D
Geoghegan
Olivia
O
Clark
Anne
A
Rogers
Yvonne
Y
Hendroff
Una
U
Monavari
Ahmad
A
Twomey
Eilish
E
Treacy
Eileen P
EP
D000293:Adolescent; D000328:Adult; D001722:Birth Order; D001921:Brain / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D015930:Diet Records; D005260:Female; D004376:Galactitol / Q000652:urine; D005690:Galactose / Q000008:administration & dosage; D005693:Galactosemias / Q000150:complications* / Q000178:diet therapy* / Q000235:genetics; D005695:Galactosephosphates / Q000097:blood; D006801:Humans; D007223:Infant; D007361:Intelligence Tests; D007494:Ireland; D007785:Lactose / Q000008:administration & dosage; D007806:Language Disorders / Q000209:etiology*; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009460:Neurologic Examination; D010349:Patient Compliance; D012189:Retrospective Studies; D035781:Siblings; D055815:Young Adult
D005695:Galactosephosphates; D004376:Galactitol; C029973:galactose-1-phosphate; D007785:Lactose; D005690:Galactose