Galactosemia natural history, complications and prognosis: Difference between revisions
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==Overview== | ==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== | ==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 <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]] | ||
* [[Hypoglycemia]] | * [[Hypoglycemia]] | ||
| Line 16: | 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>. | |||
==Complications== | ==Complications== | ||
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
- Premature ovarian insufficiency and subfertility [5]
- Cryptorchidism [6]
- Delayed psychosexual development [7]
Bone complications
Reduced bone mineral density [8]
Prognosis
The prognostic outcome of galactosemia depends on a number of factors [1]:
- 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 [9].
References
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.