Recommendations

Galactosemia diagnosis, treatment, and follow-up

GalNet screening guidelines

Recommendations addressing diagnosis, dietary treatment, biochemical monitoring, and follow-up of clinical complications were formulated. For all recommendations but one (bone density screening), full consensus was reached.1

GalNet assessments

The GalNet Guidelines recommend assessing cognitive disorders, speech/language delays, neurological complications, psychosocial deficits, and other measures of development from early childhood through the teenage years, and according to specific needs as adults.

Language & speech complications

Approximately two-thirds of patients with Classic Galactosemia have disorders of language and/or speech, including2:

Speech defects
Diminished vocabulary
Impaired grammar
Speech apraxia
Dysarthria

GalNet language/speech guidelines

According to the GalNet Guidelines, all children with Classic Galactosemia should be tested for speech and language delays beginning at age 7-12 months and thereafter at 2, 3, and 5 years of age (in conjunction with the cognitive tests described above).

Assessments include hearing tests, evaluation of prelinguistic communication skills (age <2 y), and additional assessments for any child not meeting language developmental milestones.

Neurological complications

In addition to developmental and language impairment, neurological (motor) complications may emerge, including2:

Tremor
General motor abnormality
Ataxia (impaired coordination)
Seizures
Dystonia (involuntary muscle contractions)

GalNet neurological guidelines

GalNet recommends patients with Galactosemia be examined for ataxia, tremor, dysmetria, dystonia, and other neurological complications beginning from ages 2-3 years1:

  • In pediatric patients, assessment continues at 6-month intervals
  • In adults, screening may proceed annually
  • When a specific deficit is identified, monitoring progression with the appropriate scale is advised

Mental & Behavioral Health

Potential long-term complications associated with Galactosemia

Galactosemia is a life-long condition that requires continuous management.

Psychosocial development

Patients often experience obstacles to normal psychosocial development that limit personality formation, the ability to foster relationships, and the ability to live independently.1,3,4

Emotional disturbances

Patients are also prone to a wide range of emotional disturbances, including depression, anxiety, obsessive compulsive disorder, and autism spectrum disorder. Parents of children with Galactosemia also experience depression and anxiety.1,2

GalNet mental/behavioral guidelines

Children with Classic Galactosemia should be screened for psychosocial deficits and emotional disturbances using assessments such as the Behavior Assessment System for Children (Second Edition).1

Screening should commence at age 2 in conjunction with the screening recommendations for language and speech deficits, and should thereafter be combined with the developmental testing recommended at ages 4-5, 8-10, and 12-14 years.1

Mental & Reproductive Health

Guidelines for
screening in adults

In adults, standardized tests for depression and anxiety should be administered, and frank discussions of living conditions, work and/or educational status, relationship satisfaction, and sexual intimacy should be initiated at outpatient clinic visits, with referral for counseling as needed.1

Nearly all females with Classic Galactosemia develop primary ovarian insufficiency.5,6

GalNet Gonadal Screening Guidelines

Girls with Galactosemia should be screened for hypergonadotropic hypogonadism if at 12 years old they exhibit insufficient secondary sex characteristics or do not have regular menses by the age of 14 years.1

Females with Galactosemia who progress through puberty and establish a regular menstrual cycle should nonetheless be screened annually for the development of menstrual abnormalities, secondary amenorrhea, and ovarian insufficiency.1

As Classic Galactosemia does not typically affect fertility in males, routine endocrinological evaluations in males are not recommended.1

Cataracts

Ophthalmologic complications & screening guidelines

Cataracts may be present during the first weeks of life in up to 25% of patients with Classic Galactosemia, depending on the study.

Cataracts

Cataracts have been reported to develop in approximately 21% of adult patients.4

Ophthalmologist

All patients with Galactosemia should be referred to an ophthalmologist at time of Galactosemia diagnosis, and for ophthalmological follow-up after a cataract diagnosis until the cataract has resolved.1

Non-compliance

It is recommended that patients who are non-compliant with dietary restrictions be screened for cataracts.1

Additional resource

GalNet recommendations

You can review the complete GalNet International Classic Galactosemia Guidelines here.

Download Resource

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References

  1. Welling L, Bernstein LE, Berry GT, et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017;40(2):171-176. doi:10.1007/s10545-016-9990-5
  2. Rubio-Gozalbo ME, Haskovic M, Bosch AM, et al. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis. 2019;14(1):86. doi:10.1186/s13023-019-1047-z
  3. Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I. Sweet and sour: an update on classic galactosemia. J Inherit Metab Dis. 2017;40:325-342. doi:10.1007/s10545-017-0029-3
  4. Waisbren SE, Potter NL, Gordon CM, et al. The adult galactosemic phenotype. J Inherit Metab Dis. 2012;35(2):279-286. doi:10.1007/s10545-011-9372-y
  5. Fridovich-Keil JL, Gubbels CS, Spencer JB, Sanders RD, et al. Ovarian function in girls and women with GALT-deficiency galactosemia. J Inherit Metab Dis. 2011;34:357-366.
  6. Fridovich-Keil J, Bean L, He M, et al. Epimerase deficiency galactosemia. 2011 [Updated 2016 Jun 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2020.