Galactosemia natural history, complications and prognosis

Jump to navigation Jump to search

Galactosemia Microchapters


Patient Information


Historical Perspective




Differentiating Galactosemia from other Diseases

Epidemiology and Demographics

Risk Factors


Natural History, Complications and Prognosis


History and Symptoms

Physical Examination

Laboratory Findings


Chest X Ray



Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies


Medical Therapy


Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Galactosemia natural history, complications and prognosis On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides


American Roentgen Ray Society Images of Galactosemia natural history, complications and prognosis

All Images
Echo & Ultrasound
CT Images

Ongoing Trials at Clinical

US National Guidelines Clearinghouse

NICE Guidance

FDA on Galactosemia natural history, complications and prognosis

CDC on Galactosemia natural history, complications and prognosis

Galactosemia natural history, complications and prognosis in the news

Blogs on Galactosemia natural history, complications and prognosis

Directions to Hospitals Treating Galactosemia

Risk calculators and risk factors for Galactosemia natural history, complications and prognosis

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


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].


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]


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


  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.

Template:WH Template:WS