This proposal for new guidelines is meant to be used in the follow up of patients with classical galactosemia in a stable condition after the initial diagnosis.

Hospital visits in a metabolic centre

Specific attention:
growth, pubertal development, psychomotor development, school results, development of speech and language, neurological evaluation.

Age 0-1

Formal cognitive evaluation by a child psychologist
when abnormalities suspected
Age 3-4, 6, thereafter on indication

Evaluation of speech and language development by a specialised speech therapist
when abnormalities suspected
specific attention: verbal dyspraxia
Age 3, thereafter on indication

Evaluation of motor development
when abnormalities suspected on physical examination
Age 1
Age 3

Endocrine evaluation
Discuss all girls with a child endocrinologist
Age 10-12

Biochemical evaluation
Red cell galactose-1-phosphate or urine galactitol

Dietary evaluation
Visit to a specialised dietician, evaluation of calcium intake