Abstract
Galactosemia is a secondary glycosylation disorder characterized by galactose deficiency of glycoproteins and glycolipids. Abnormal glycosylation of coagulation factors and evidence of liver disease are associated with coagulopathy in galactosemic infants. We report a case of a neonate with galactosemia presenting with bilateral vitreous hemorrhage (VH). During the follow-up, hemorrhage in the right eye resolved; however, it persisted in the left eye. Vitrectomy was planned for the left eye. In addition to cataract, VH is another ophthalmic finding in galactosemia with serious sequelae such as amblyopia. Serious complications of coagulopathy in galactosemic infants can be prevented with early diagnosis and prompt treatment. Inclusion of galactosemia in the neonatal screening program offers an opportunity to prevent early severe symptoms.
Competing interests: None declared.
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Abbreviations
- GALE:
-
UDP-galactose 4’epimerase
- GALK:
-
Galactokinase
- GALT:
-
Galactose 1-phosphate uridyltransferase
- VH:
-
Vitreous hemorrhage
References
Bosch AM (2006) Classical galactosaemia revisited. J Inherit Metab Dis 29:516–525
Burke JP, O’Keefe M, Bowell R, Naughten ER (1989) Ophthalmic findings in classical galactosemia-a screened population. J Pediatr Ophthalmol Strabismus 26:165–168
Coskun T, Erkul E, Seyrantepe V, Ozgüç M, Tokatli A, Ozalp I (1995) Mutational analysis of Turkish galactosaemia patients. J Inherit Metab Dis 18:368–369
Elsas LJ (2000) Galactosemia. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=galactosemia
Emerson MV, Pieramici DJ, Stoessel KM, Berreen JP, Gariano RF (2001) Incidence and rate of disappearance of retinal hemorrhage in newborns. Ophthalmology 108:36–39
Ferrone PJ, de Juan E Jr (1994) Vitreous hemorrhage in infants. Arch Ophthalmol 112:1185–1189
Fridovich-Keil JL (2006) Galactosemia: the good, the bad, and the unknown. J Cell Physiol 209:701–705
Holtan JB, Walter JH, Tyfield LA (2001) Galactosemia. In: The metabolic and molecular bases of inherited disease, 8th edn. The McGraw-Hill Companies, Newyork
Item C, Hagerty BP, Mühl A, Greber-Platzer S, Stöckler-Ipsiroglu S, Strobl W (2002) Mutations at the galactose-1-p-uridyltransferase gene in infants with a positive galactosemia newborn screening test. Pediatr Res 51:511–516
Kador PF, Takahashi Y, Wyman M, Ferris F (1995) Diabetes like proliferative retinal changes in galactose-fed dogs. Arch Ophthalmol 113:352–354
Kobayashi T, Kubo E, Takahashi Y, Kasahara T, Yonezawa H, Akagi Y (1998) Retinal vessel changes in galactose-fed dogs. Arch Ophthalmol 116:785–789
Laumonier E, Labalette P, Morisot C, Mouriaux F, Dobbelaere D, Rouland JF (2005) Vitreous hemorrhage in a neonate with galactosemia. A case report. J Fr Ophtalmol 28:490–496
Levy HL, Brown AE, Williams SE, de Juan E Jr (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia. J Pediatr 129:922–925
Sturiale L, Barone R, Fiumara A et al (2005) Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology 15:1268–1276
Takahashi Y, Wyman M, Ferris F, Kador PF (1992) Diabetes like preproliferative retinal changes in galactose-fed dogs. Arch Ophthalmol 110:1295–1302
Tyfield L, Reichardt J, Fridovich-Keil J et al (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat 13:417–430
Waggoner DD, Buist NR, Donnell GN (1990) Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inherit Metab Dis 13:802–818
Widger J, O'Toole J, Geoghegan O, O'Keefe M, Manning R (2010) Diet and visually significant cataracts in galactosaemia: is regular follow up necessary? J Inherit Metab Dis 33:129–132
Woo HC, Phornphutkul C, Laptook AR (2010) Early and severe indirect hyperbilirubinemia as a manifestation of galactosemia. J Perinatol 30:295–297
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Communicated by: Gerard T. Berry
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Concise Summary
Cataract has been reported as the main ophthalmic finding of galactosemia. However, there are also reports on another ophthalmic complication, vitreous hemorrhage (VH), which is rarely observed. Here, we present bilateral VH, with spontaneous resolution in one eye, in an infant diagnosed with classic galactosemia.
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Sahin Takci is the corresponding author and the guarantor for this paper.
Sibel Kadayifciler was responsible for the ophthalmic examination.
Turgay Coskun was responsible for the metabolic and genetic workup for galactosemia.
Sule Yigit followed the patient in the neonatal intensive care unit and helped in the writing of the manuscript.
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All authors declare that the answers to all questions on the JIMD competing interest questionnaire are “No.”
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Takci, S., Kadayifcilar, S., Coskun, T., Yigit, S., Hismi, B. (2011). A Rare Galactosemia Complication: Vitreous Hemorrhage. In: JIMD Reports - Case and Research Reports, 2012/2. JIMD Reports, vol 5. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_103
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DOI: https://doi.org/10.1007/8904_2011_103
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