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Elevated erythrocyte galactose-1-phosphate concentration

MedGen UID:
1864197
•Concept ID:
C5937365
•
Cell or Molecular Dysfunction
HPO: HP:6000610

Definition

Concentration of galactose-1-phosphate in red blood cells (erythrocytes) above the upper level of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated erythrocyte galactose-1-phosphate concentration

Professional guidelines

PubMed

Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Janzen N, Illsinger S, Meyer U, Shin YS, Sander J, Lücke T, Das AM
Arch Med Res 2011 Oct;42(7):608-12. Epub 2011 Dec 5 doi: 10.1016/j.arcmed.2011.11.004. PMID: 22154682
Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening.
Mizoguchi N, Ono H, Eguchi T, Sakura N
Eur J Pediatr 2000 Nov;159(11):851-3. doi: 10.1007/pl00008352. PMID: 11079200

Recent clinical studies

Etiology

The effect of diet on total antioxidant status, erythrocyte membrane Na+,K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia.
Schulpis KH, Michelakakis H, Tsakiris T, Tsakiris S
Clin Nutr 2005 Feb;24(1):151-7. doi: 10.1016/j.clnu.2004.09.001. PMID: 15681113

Diagnosis

Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Janzen N, Illsinger S, Meyer U, Shin YS, Sander J, Lücke T, Das AM
Arch Med Res 2011 Oct;42(7):608-12. Epub 2011 Dec 5 doi: 10.1016/j.arcmed.2011.11.004. PMID: 22154682
Classical galactosaemia revisited.
Bosch AM
J Inherit Metab Dis 2006 Aug;29(4):516-25. Epub 2006 Jul 11 doi: 10.1007/s10545-006-0382-0. PMID: 16838075
Galactose metabolites in blood from neonates with and without hypergalactosaemia detected by mass screening.
Mizoguchi N, Ono H, Eguchi T, Sakura N
Eur J Pediatr 2000 Nov;159(11):851-3. doi: 10.1007/pl00008352. PMID: 11079200
A new microfluorometric method for the measurement of galactose-1-phosphate in erythrocytes.
Pesce MA, Bodourian SH, Nicholson JF
Clin Chim Acta 1982 Feb 5;118(2-3):177-89. doi: 10.1016/0009-8981(82)90005-5. PMID: 7055979

Therapy

Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Janzen N, Illsinger S, Meyer U, Shin YS, Sander J, Lücke T, Das AM
Arch Med Res 2011 Oct;42(7):608-12. Epub 2011 Dec 5 doi: 10.1016/j.arcmed.2011.11.004. PMID: 22154682
The effect of diet on total antioxidant status, erythrocyte membrane Na+,K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia.
Schulpis KH, Michelakakis H, Tsakiris T, Tsakiris S
Clin Nutr 2005 Feb;24(1):151-7. doi: 10.1016/j.clnu.2004.09.001. PMID: 15681113
Effect of glucose and galactose loading in normal subjects on red and white blood cell uridine diphosphate sugars.
Gibson JB, Berry GT, Mazur AT, Palmieri MJ, Reynolds RA, Segal S
Biochem Mol Med 1995 Jun;55(1):8-14. doi: 10.1006/bmme.1995.1025. PMID: 7551832

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