Galactosemia screening: Difference between revisions
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===Tests used to screen for [[galactosemia]]=== | ===Tests used to screen for [[galactosemia]]=== | ||
* '''[[RBC]] [[Galactose]] level''' : Total blood [[galactose]] measurement alone or in combination with [[GALT]] activity in a dried [[blood]] sample is used for primary [[screening]]. [[Galactose-1-phosphate]] more than 10mg% is highly suggestive of [[galactosemia]]. <ref name="pmid25528144">{{cite journal| author=Adam BW, Flores SR, Hou Y, Allen TW, De Jesus VR| title=Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests. | journal=Clin Biochem | year= 2015 | volume= 48 | issue= 6 | pages= 437-42 | pmid=25528144 | doi=10.1016/j.clinbiochem.2014.12.009 | pmc=4547523 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25528144 }} </ref> | * '''[[RBC]] [[Galactose]] level''' : Total blood [[galactose]] measurement alone or in combination with [[GALT]] activity in a dried [[blood]] sample is used for primary [[screening]]. [[Galactose-1-phosphate]] more than 10mg% is highly suggestive of [[galactosemia]]. <ref name="pmid25528144">{{cite journal| author=Adam BW, Flores SR, Hou Y, Allen TW, De Jesus VR| title=Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests. | journal=Clin Biochem | year= 2015 | volume= 48 | issue= 6 | pages= 437-42 | pmid=25528144 | doi=10.1016/j.clinbiochem.2014.12.009 | pmc=4547523 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25528144 }} </ref> | ||
*'''Reducing substances in urine''': Presence of reducing [[sugars]] in [[urine]] other than [[glucose]] is highly suggestive of [[galactosemia]]. But, this test is highly [[non-specific]] as it is positive in various other clinical conditions ([[prematurity]] <ref name="pmid13479147">{{cite journal| author=HAWORTH JC, MACDONALD MS| title=Reducing sugars in the urine and blood of premature babies. | journal=Arch Dis Child | year= 1957 | volume= 32 | issue= 165 | pages= 417-21 | pmid=13479147 | doi=10.1136/adc.32.165.417 | pmc=2012154 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13479147 }} </ref>, [[proximal renal tubular acidosis]] <ref name="pmid23235953">{{cite journal| author=Haque SK, Ariceta G, Batlle D| title=Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. | journal=Nephrol Dial Transplant | year= 2012 | volume= 27 | issue= 12 | pages= 4273-87 | pmid=23235953 | doi=10.1093/ndt/gfs493 | pmc=3616759 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23235953 }} </ref> etc.) | *'''Reducing substances in [[urine]]''': Presence of reducing [[sugars]] in [[urine]] other than [[glucose]] is highly suggestive of [[galactosemia]]. But, this test is highly [[non-specific]] as it is positive in various other clinical conditions ([[prematurity]] <ref name="pmid13479147">{{cite journal| author=HAWORTH JC, MACDONALD MS| title=Reducing sugars in the urine and blood of premature babies. | journal=Arch Dis Child | year= 1957 | volume= 32 | issue= 165 | pages= 417-21 | pmid=13479147 | doi=10.1136/adc.32.165.417 | pmc=2012154 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=13479147 }} </ref>, [[proximal renal tubular acidosis]] <ref name="pmid23235953">{{cite journal| author=Haque SK, Ariceta G, Batlle D| title=Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. | journal=Nephrol Dial Transplant | year= 2012 | volume= 27 | issue= 12 | pages= 4273-87 | pmid=23235953 | doi=10.1093/ndt/gfs493 | pmc=3616759 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23235953 }} </ref> etc.) | ||
* '''Galactitol excretion in urine''': Boronic [[acid-based]] methods and multi-well-based [[arrays]] help in detection of [[galactitol]] in [[urine]], a potent [[neurotoxin]]<ref name="pmid27116118">{{cite journal| author=Resendez A, Panescu P, Zuniga R, Banda I, Joseph J, Webb DL | display-authors=etal| title=Multiwell Assay for the Analysis of Sugar Gut Permeability Markers: Discrimination of Sugar Alcohols with a Fluorescent Probe Array Based on Boronic Acid Appended Viologens. | journal=Anal Chem | year= 2016 | volume= 88 | issue= 10 | pages= 5444-52 | pmid=27116118 | doi=10.1021/acs.analchem.6b00880 | pmc=5747966 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27116118 }} </ref>. This test also plays an important role in checking adherence to [[galactose]] restricted [[diet]] and projecting [[cataract]] development in babies born to [[galactosemic]] expectant mothers <ref name="pmid7671961">{{cite journal| author=Jakobs C, Kleijer WJ, Allen J, Holton JB| title=Prenatal diagnosis of galactosemia. | journal=Eur J Pediatr | year= 1995 | volume= 154 | issue= 7 Suppl 2 | pages= S33-6 | pmid=7671961 | doi=10.1007/BF02143800 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7671961 }} </ref>. | * '''[[Galactitol]] excretion in [[urine]]''': Boronic [[acid-based]] methods and multi-well-based [[arrays]] help in detection of [[galactitol]] in [[urine]], a potent [[neurotoxin]]<ref name="pmid27116118">{{cite journal| author=Resendez A, Panescu P, Zuniga R, Banda I, Joseph J, Webb DL | display-authors=etal| title=Multiwell Assay for the Analysis of Sugar Gut Permeability Markers: Discrimination of Sugar Alcohols with a Fluorescent Probe Array Based on Boronic Acid Appended Viologens. | journal=Anal Chem | year= 2016 | volume= 88 | issue= 10 | pages= 5444-52 | pmid=27116118 | doi=10.1021/acs.analchem.6b00880 | pmc=5747966 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27116118 }} </ref>. This test also plays an important role in checking adherence to [[galactose]] restricted [[diet]] and projecting [[cataract]] development in babies born to [[galactosemic]] expectant mothers <ref name="pmid7671961">{{cite journal| author=Jakobs C, Kleijer WJ, Allen J, Holton JB| title=Prenatal diagnosis of galactosemia. | journal=Eur J Pediatr | year= 1995 | volume= 154 | issue= 7 Suppl 2 | pages= S33-6 | pmid=7671961 | doi=10.1007/BF02143800 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7671961 }} </ref>. | ||
* '''[[Hypoglycemia]], [[lactic acidosis]], [[ketonuria]]''': This triad is present in [[neonates]] challenged with [[galactose]], but is seen in a wide [[range]] of [[clinical]] [[conditions]], thus being extremely [[non-specific]]. <ref name="pmid19893643">{{cite journal| author=Christopher R, Sankaran BP| title=An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist. | journal=Ann Indian Acad Neurol | year= 2008 | volume= 11 | issue= 2 | pages= 68-81 | pmid=19893643 | doi=10.4103/0972-2327.41873 | pmc=2771954 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19893643 }} </ref> | * '''[[Hypoglycemia]], [[lactic acidosis]], [[ketonuria]]''': This triad is present in [[neonates]] challenged with [[galactose]], but is seen in a wide [[range]] of [[clinical]] [[conditions]], thus being extremely [[non-specific]]. <ref name="pmid19893643">{{cite journal| author=Christopher R, Sankaran BP| title=An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist. | journal=Ann Indian Acad Neurol | year= 2008 | volume= 11 | issue= 2 | pages= 68-81 | pmid=19893643 | doi=10.4103/0972-2327.41873 | pmc=2771954 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19893643 }} </ref> | ||
* '''RBC Enzyme Activity''': [[GALT]] activity assessment, combined with [[galactose-1-phosphate]] in a dried [[blood]] spot, can directly detect disorders associated with [[GALT]] and indirectly those associated with [[GALK]] and [[GALE]] and [[Duarte]] [[galactosemia]]. <ref name="pmid29261178">{{cite journal| author=Pasquali M, Yu C, Coffee B| title=Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). | journal=Genet Med | year= 2018 | volume= 20 | issue= 1 | pages= 3-11 | pmid=29261178 | doi=10.1038/gim.2017.172 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29261178 }} </ref> | * '''[[RBC]] [[Enzyme]] Activity''': [[GALT]] activity assessment, combined with [[galactose-1-phosphate]] in a dried [[blood]] spot, can directly detect disorders associated with [[GALT]] and indirectly those associated with [[GALK]] and [[GALE]] and [[Duarte]] [[galactosemia]]. <ref name="pmid29261178">{{cite journal| author=Pasquali M, Yu C, Coffee B| title=Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG). | journal=Genet Med | year= 2018 | volume= 20 | issue= 1 | pages= 3-11 | pmid=29261178 | doi=10.1038/gim.2017.172 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29261178 }} </ref> | ||
==References== | ==References== | ||
Revision as of 16:07, 2 July 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
Now most of the infants are screened for galactosemia at birth in the US with a simple blood test with a heel prick. If suspected of having galactosemia, it is possible to diagnose unborn children with amniocentesis.
Screening
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [3] Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[4]
Galactosemia despite being incurable, qualifies for screening as early detection can prevent complications.[1]
Tests used to screen for galactosemia
- RBC Galactose level : Total blood galactose measurement alone or in combination with GALT activity in a dried blood sample is used for primary screening. Galactose-1-phosphate more than 10mg% is highly suggestive of galactosemia. [2]
- Reducing substances in urine: Presence of reducing sugars in urine other than glucose is highly suggestive of galactosemia. But, this test is highly non-specific as it is positive in various other clinical conditions (prematurity [3], proximal renal tubular acidosis [4] etc.)
- Galactitol excretion in urine: Boronic acid-based methods and multi-well-based arrays help in detection of galactitol in urine, a potent neurotoxin[5]. This test also plays an important role in checking adherence to galactose restricted diet and projecting cataract development in babies born to galactosemic expectant mothers [6].
- Hypoglycemia, lactic acidosis, ketonuria: This triad is present in neonates challenged with galactose, but is seen in a wide range of clinical conditions, thus being extremely non-specific. [7]
- RBC Enzyme Activity: GALT activity assessment, combined with galactose-1-phosphate in a dried blood spot, can directly detect disorders associated with GALT and indirectly those associated with GALK and GALE and Duarte galactosemia. [8]
References
- ↑ Kotb MA, Mansour L, William Shaker Basanti C, El Garf W, Ali GIZ, Mostafa El Sorogy ST; et al. (2018). "Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt". J Adv Res. 12: 39–45. doi:10.1016/j.jare.2018.02.001. PMC 6054589. PMID 30038819.
- ↑ Adam BW, Flores SR, Hou Y, Allen TW, De Jesus VR (2015). "Galactose-1-phosphate uridyltransferase dried blood spot quality control materials for newborn screening tests". Clin Biochem. 48 (6): 437–42. doi:10.1016/j.clinbiochem.2014.12.009. PMC 4547523. PMID 25528144.
- ↑ HAWORTH JC, MACDONALD MS (1957). "Reducing sugars in the urine and blood of premature babies". Arch Dis Child. 32 (165): 417–21. doi:10.1136/adc.32.165.417. PMC 2012154. PMID 13479147.
- ↑ Haque SK, Ariceta G, Batlle D (2012). "Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies". Nephrol Dial Transplant. 27 (12): 4273–87. doi:10.1093/ndt/gfs493. PMC 3616759. PMID 23235953.
- ↑ Resendez A, Panescu P, Zuniga R, Banda I, Joseph J, Webb DL; et al. (2016). "Multiwell Assay for the Analysis of Sugar Gut Permeability Markers: Discrimination of Sugar Alcohols with a Fluorescent Probe Array Based on Boronic Acid Appended Viologens". Anal Chem. 88 (10): 5444–52. doi:10.1021/acs.analchem.6b00880. PMC 5747966. PMID 27116118.
- ↑ Jakobs C, Kleijer WJ, Allen J, Holton JB (1995). "Prenatal diagnosis of galactosemia". Eur J Pediatr. 154 (7 Suppl 2): S33–6. doi:10.1007/BF02143800. PMID 7671961.
- ↑ Christopher R, Sankaran BP (2008). "An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist". Ann Indian Acad Neurol. 11 (2): 68–81. doi:10.4103/0972-2327.41873. PMC 2771954. PMID 19893643.
- ↑ Pasquali M, Yu C, Coffee B (2018). "Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG)". Genet Med. 20 (1): 3–11. doi:10.1038/gim.2017.172. PMID 29261178.