Galactosemia natural history, complications and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Dayana Davidis, M.D. [2]

Overview

Galactosemia is an inherited metabolic disorder with a variable natural history. It can lead to severe systemic complications if neglected. The prognosis depends on various factors.

Natural History

Acute neonatal illness is experienced by most patients. A reported lower enzyme activity leads to more severe presentation while newborn screening results in detection at more favorable stages of the disease. Clinical features include [1] having one or more of:

A younger age of diagnosis and early introduction of dietary changes exert a positive effect on the natural history of galactosemia [2] [3].

Complications

Despite dietary modifications, most of the galactosemic patients develop neurological and/or gonadal complications and are at risk of bone damage [1].

Neurological , cognitive and behavioral complications [4]:

  • Tremor: Most often seen in the second decade of life [1]
  • General motor abnormality ataxia
  • Seizures
  • Dystonia
  • Anxiety disorder: It is the most frequently reported mental problem and common in all age categories, usually after the second decade.
  • ADHD, ASD: More likely before the second decade

Gonadal complications

Bone complications

Reduced bone mineral density [8]

Prognosis

The prognostic outcome of galactosemia depends on a number of factors [1]:

References

  1. 1.0 1.1 1.2 1.3 Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D; et al. (2019). "The natural history of classic galactosemia: lessons from the GalNet registry". Orphanet J Rare Dis. 14 (1): 86. doi:10.1186/s13023-019-1047-z. PMC 6486996. PMID 31029175.
  2. Berry GT, Nissim I, Gibson JB, Mazur AT, Lin Z, Elsas LJ; et al. (1997). "Quantitative assessment of whole body galactose metabolism in galactosemic patients". Eur J Pediatr. 156 Suppl 1: S43–9. doi:10.1007/pl00014271. PMID 9266215.
  3. Berry GT (2012). "Galactosemia: when is it a newborn screening emergency?". Mol Genet Metab. 106 (1): 7–11. doi:10.1016/j.ymgme.2012.03.007. PMID 22483615.
  4. Rubio-Agusti I, Carecchio M, Bhatia KP, Kojovic M, Parees I, Chandrashekar HS; et al. (2013). "Movement disorders in adult patients with classical galactosemia". Mov Disord. 28 (6): 804–10. doi:10.1002/mds.25348. PMID 23400815.
  5. Frederick AB, Zinsli AM, Carlock G, Conneely K, Fridovich-Keil JL (2018). "Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia". J Inherit Metab Dis. 41 (5): 785–790. doi:10.1007/s10545-018-0177-0. PMC 6128750. PMID 29721917.
  6. Gubbels CS, Welt CK, Dumoulin JC, Robben SG, Gordon CM, Dunselman GA; et al. (2013). "The male reproductive system in classic galactosemia: cryptorchidism and low semen volume". J Inherit Metab Dis. 36 (5): 779–86. doi:10.1007/s10545-012-9539-1. PMID 23053469.
  7. Gubbels CS, Maurice-Stam H, Berry GT, Bosch AM, Waisbren S, Rubio-Gozalbo ME; et al. (2011). "Psychosocial developmental milestones in men with classic galactosemia". J Inherit Metab Dis. 34 (2): 415–9. doi:10.1007/s10545-011-9290-z. PMC 3112026. PMID 21350966.
  8. van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J; et al. (2017). "Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis". JIMD Rep. 35: 87–96. doi:10.1007/8904_2016_28. PMC 5585100. PMID 27995581.
  9. Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT (2014). "A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia". Mol Genet Metab. 112 (3): 191–7. doi:10.1016/j.ymgme.2014.04.004. PMID 24857409.

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