Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders.
By limiting galactosylation mechanisms, a cellular deficiency of the uridine sugar nucleotide, UDPgalactose, has been implicated as a cause of the long-term complications seen in patients with classic galactosemia despite dietary treatment. As a result, great interest has been generated in the accurate assessment of UDPgalactose, as well as UDPglucose, from which UDPgalactose may be derived by the function of a ubiquitous, active UDPgalactose-4-epimerase. Since several series of values for the concentration of these compounds in red blood cells (RBCs) of galactosemics have been flawed by the use of methods subsequently shown to be unsuitable, we have quantified erythrocyte UDPgalactose and UDPglucose levels by an accurate high-performance liquid chromatography (HPLC) assay in 116 normals, 76 galactosemics, and 39 patients with other metabolic disorders. These large groups have permitted the evaluation of age, diet, and genotype as influential factors in the steady-state RBC levels of the sugar nucleotides. The data show that age is an important determinant of RBC levels, with children younger than 10 years having higher values than individuals older than 10 years. Mean UDPgalactose levels in galactosemic children younger than 10 years and those older than 10 years were 30% and 18% lower, respectively, than levels in comparable normals. Although the mean differences were highly significant, there was considerable overlap of individual values. There was no difference in UDPglucose levels between galactosemics and normals.(ABSTRACT TRUNCATED AT 250 WORDS)
Gibson
J B
JB
Division of Biochemical Development and Molecular Diseases, Children's Hospital of Philadelphia, PA 19104, USA.
Reynolds
R A
RA
Palmieri
M J
MJ
Berry
G T
GT
Elsas
L J
LJ
Levy
H L
HL
Segal
S
S
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004912:Erythrocytes / Q000737:chemistry / Q000378:metabolism*; D005693:Galactosemias / Q000097:blood* / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008659:Metabolic Diseases / Q000097:blood*; D008875:Middle Aged; D012016:Reference Values; D014531:Uridine Diphosphate Galactose / Q000097:blood*; D014532:Uridine Diphosphate Glucose / Q000097:blood*
D014531:Uridine Diphosphate Galactose; D014532:Uridine Diphosphate Glucose