Galactosemia screening
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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]
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.