[Severe neurologic course of galactosemia. Default of myelisation caused by deficient synthesis of UDP-galactose?].
We describe the unfavourable neurological outcome of a galactosemic patient who however received an appropriate diet from the neonatal period. The magnetic resonance imaging showed significantly abnormal myelinization of the brain. The biochemical hypotheses at the origin of this abnormal cerebral myelinization are discussed in our patient. The 1-14C incorporation in the TCA precipitable glycoproteins reached 21% of the average value observed in 6 controls; it ranged from 37% to 59% for galactosemic patients without neurological disturbances. These results, which have to be confirmed, suggest that some galactosemic patients have a very low UDP-galactose synthesis.
Choulot
J J
JJ
Service de Pédiatrie, Centre Hospitalier de Pau.
Brivet
M
M
Virlon
P
P
Sevely
A
A
Manelfe
C
C
Mensire
A
A
Saint-Martin
J
J
D005693:Galactosemias / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009186:Myelin Sheath / Q000502:physiology*; D009422:Nervous System Diseases / Q000209:etiology*; D013997:Time Factors; D014531:Uridine Diphosphate Galactose / Q000378:metabolism*
D014531:Uridine Diphosphate Galactose
Evolution neurologique sévère d'une galactosémie. Défaut de myélinisation par synthèse insuffisante en UDP galactose?