Galactosemia natural history, complications and prognosis: Difference between revisions

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==Overview==
==Overview==
The only scientifically approved and effective treatment for classic galactosemia is eliminating galactose from the diet, through elimination of dairy products. Individuals with Duarte variant of galactosemia do not need to eliminate galactose from their diet at all and may not experience any symptoms.  However, even with an early diagnosis and subsequent elimination of galactose from the diet, some individuals diagnosed with classic galactosemia experience long term complications such as speech difficulties, learning disabilities and neurological impairment.  Newborns with classic galactosemia will show symptoms the first days of life if they are fed formula or breast milk which contain lactose. They will develop symptoms like convulsions, irritability, lethargy, poor appetite and baby refusing to be fed, poor weight gain, vomiting and jaundice noticed with yellow skin and yellow whites of the eyes.
[[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==
==Natural History==
{{CMG}} {{AE}} {{Sujaya}}
[[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 <ref name="pmid31029175">{{cite journal| author=Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D | display-authors=etal| title=The natural history of classic galactosemia: lessons from the GalNet registry. | journal=Orphanet J Rare Dis | year= 2019 | volume= 14 | issue= 1 | pages= 86 | pmid=31029175 | doi=10.1186/s13023-019-1047-z | pmc=6486996 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31029175  }} </ref> having one or more of:
[[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 <ref name="pmid31029175">{{cite journal| author=Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D | display-authors=etal| title=The natural history of classic galactosemia: lessons from the GalNet registry. | journal=Orphanet J Rare Dis | year= 2019 | volume= 14 | issue= 1 | pages= 86 | pmid=31029175 | doi=10.1186/s13023-019-1047-z | pmc=6486996 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31029175  }} </ref> having one or more of:
* Elevated [[liver]] [[enzymes]]
* Elevated [[liver]] [[enzymes]]
Line 15: Line 13:
* [[Sepsis]]
* [[Sepsis]]
* [[Bleeding]] [[diathesis]]
* [[Bleeding]] [[diathesis]]
* [[Cataract]]
A younger age of [[diagnosis]] and early introduction of [[dietary]] changes exert a positive effect on the natural history of [[galactosemia]] <ref name="pmid9266215">{{cite journal| author=Berry GT, Nissim I, Gibson JB, Mazur AT, Lin Z, Elsas LJ | display-authors=etal| title=Quantitative assessment of whole body galactose metabolism in galactosemic patients. | journal=Eur J Pediatr | year= 1997 | volume= 156 Suppl 1 | issue=  | pages= S43-9 | pmid=9266215 | doi=10.1007/pl00014271 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9266215  }} </ref> <ref name="pmid22483615">{{cite journal| author=Berry GT| title=Galactosemia: when is it a newborn screening emergency? | journal=Mol Genet Metab | year= 2012 | volume= 106 | issue= 1 | pages= 7-11 | pmid=22483615 | doi=10.1016/j.ymgme.2012.03.007 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22483615  }} </ref>.
A younger age of [[diagnosis]] and early introduction of [[dietary]] changes exert a positive effect on the natural history of [[galactosemia]] <ref name="pmid9266215">{{cite journal| author=Berry GT, Nissim I, Gibson JB, Mazur AT, Lin Z, Elsas LJ | display-authors=etal| title=Quantitative assessment of whole body galactose metabolism in galactosemic patients. | journal=Eur J Pediatr | year= 1997 | volume= 156 Suppl 1 | issue=  | pages= S43-9 | pmid=9266215 | doi=10.1007/pl00014271 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9266215  }} </ref> <ref name="pmid22483615">{{cite journal| author=Berry GT| title=Galactosemia: when is it a newborn screening emergency? | journal=Mol Genet Metab | year= 2012 | volume= 106 | issue= 1 | pages= 7-11 | pmid=22483615 | doi=10.1016/j.ymgme.2012.03.007 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22483615  }} </ref>.


==Complications==
==Complications==
{{CMG}} {{AE}} {{Sujaya}}
Despite [[dietary]] modifications, most of the [[galactosemic]] patients develop [[neurological]] and/or [[gonadal]] [[complications]] and are at risk of [[bone]] damage <ref name="pmid31029175">{{cite journal| author=Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D | display-authors=etal| title=The natural history of classic galactosemia: lessons from the GalNet registry. | journal=Orphanet J Rare Dis | year= 2019 | volume= 14 | issue= 1 | pages= 86 | pmid=31029175 | doi=10.1186/s13023-019-1047-z | pmc=6486996 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31029175  }} </ref>.
Despite [[dietary]] modifications, most of the [[galactosemic]] patients develop [[neurological]] and/or [[gonadal]] [[complications]] and are at risk of [[bone]] damage <ref name="pmid31029175">{{cite journal| author=Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D | display-authors=etal| title=The natural history of classic galactosemia: lessons from the GalNet registry. | journal=Orphanet J Rare Dis | year= 2019 | volume= 14 | issue= 1 | pages= 86 | pmid=31029175 | doi=10.1186/s13023-019-1047-z | pmc=6486996 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31029175  }} </ref>.
=== [[Neurological]] , [[cognitive]] and [[behavioral]] complications <ref name="pmid23400815">{{cite journal| author=Rubio-Agusti I, Carecchio M, Bhatia KP, Kojovic M, Parees I, Chandrashekar HS | display-authors=etal| title=Movement disorders in adult patients with classical galactosemia. | journal=Mov Disord | year= 2013 | volume= 28 | issue= 6 | pages= 804-10 | pmid=23400815 | doi=10.1002/mds.25348 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23400815  }} </ref>: ===
* '''[[Tremor]]''': Most often seen in the second decade of life <ref name="pmid31029175">{{cite journal| author=Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D | display-authors=etal| title=The natural history of classic galactosemia: lessons from the GalNet registry. | journal=Orphanet J Rare Dis | year= 2019 | volume= 14 | issue= 1 | pages= 86 | pmid=31029175 | doi=10.1186/s13023-019-1047-z | pmc=6486996 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31029175  }} </ref>
* 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===
* [[Premature]] [[ovarian]] [[insufficiency]] and [[subfertility]] <ref name="pmid29721917">{{cite journal| author=Frederick AB, Zinsli AM, Carlock G, Conneely K, Fridovich-Keil JL| title=Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia. | journal=J Inherit Metab Dis | year= 2018 | volume= 41 | issue= 5 | pages= 785-790 | pmid=29721917 | doi=10.1007/s10545-018-0177-0 | pmc=6128750 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29721917  }} </ref>
* [[Cryptorchidism]] <ref name="pmid23053469">{{cite journal| author=Gubbels CS, Welt CK, Dumoulin JC, Robben SG, Gordon CM, Dunselman GA | display-authors=etal| title=The male reproductive system in classic galactosemia: cryptorchidism and low semen volume. | journal=J Inherit Metab Dis | year= 2013 | volume= 36 | issue= 5 | pages= 779-86 | pmid=23053469 | doi=10.1007/s10545-012-9539-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23053469  }} </ref>
* [[Delayed]] [[psychosexual]] [[development]] <ref name="pmid21350966">{{cite journal| author=Gubbels CS, Maurice-Stam H, Berry GT, Bosch AM, Waisbren S, Rubio-Gozalbo ME | display-authors=etal| title=Psychosocial developmental milestones in men with classic galactosemia. | journal=J Inherit Metab Dis | year= 2011 | volume= 34 | issue= 2 | pages= 415-9 | pmid=21350966 | doi=10.1007/s10545-011-9290-z | pmc=3112026 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21350966  }} </ref>
===[[Bone]] complications===
Reduced [[bone]] [[mineral]] [[density]] <ref name="pmid27995581">{{cite journal| author=van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J | display-authors=etal| title=Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. | journal=JIMD Rep | year= 2017 | volume= 35 | issue=  | pages= 87-96 | pmid=27995581 | doi=10.1007/8904_2016_28 | pmc=5585100 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27995581  }} </ref>


==Prognosis==
==Prognosis==
The prognostic outcome of [[galactosemia]] depends on a number of factors <ref name="pmid31029175">{{cite journal| author=Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D | display-authors=etal| title=The natural history of classic galactosemia: lessons from the GalNet registry. | journal=Orphanet J Rare Dis | year= 2019 | volume= 14 | issue= 1 | pages= 86 | pmid=31029175 | doi=10.1186/s13023-019-1047-z | pmc=6486996 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31029175  }} </ref>:
* '''[[Newborn]] [[screening]]''': Associated with lower rates of [[neurological]] symptoms
* '''[[Enzyme]] activity''': [[Enzyme]] acitivity <1% correlates with more severe [[mental]] and [[behavioral]] symptoms.
* '''[[Diet]]''': Onset of [[diet]] in the first week of life is associated with a more favorable prognosis. Moreover, a relaxed [[diet]] ([[lactose]] free without any further restrictions) has been proven to be more beneficial than a strict [[diet]] for long-term [[clinical]] outcomes <ref name="pmid24857409">{{cite journal| author=Van Calcar SC, Bernstein LE, Rohr FJ, Scaman CH, Yannicelli S, Berry GT| title=A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia. | journal=Mol Genet Metab | year= 2014 | volume= 112 | issue= 3 | pages= 191-7 | pmid=24857409 | doi=10.1016/j.ymgme.2014.04.004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24857409  }} </ref>.


==References==
==References==

Latest revision as of 15:06, 18 August 2022

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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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