First report of management and outcome of pregnancies associated with hereditary orotic aciduria.
Two pregnancies in a 25-year-old woman with hereditary orotic aciduria who was managed prenatally on uridine therapy are described. The first pregnancy resulted in an infant with multiple congenital anomalies and a 47,xx,inv(4)(p12q25), +der(22)t(11;22)(p23;q11) karyotype. The proposita was found to be a carrier of a de novo 11;22 translocation and a pericentric inversion of chromosome 4. Subsequently, several carriers of orotic aciduria in this family were identified with the inverted chromosome 4. The second pregnancy resulted in a normal male with an inverted chromosome 4.
Bensen
J T
JT
Department of Neurology Bouman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina 27157.
Nelson
L H
LH
Pettenati
M J
MJ
Block
S M
SM
Brusilow
S W
SW
Livingstone
L R
LR
Burton
B K
BK
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009097:Multienzyme Complexes / Q000172:deficiency; D009962:Orotate Phosphoribosyltransferase / Q000172:deficiency; D009963:Orotic Acid / Q000652:urine*; D009964:Orotidine-5'-Phosphate Decarboxylase / Q000172:deficiency; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications / Q000652:urine*; D014178:Translocation, Genetic
D009097:Multienzyme Complexes; D009963:Orotic Acid; C027157:uridine 5'-monophosphate synthase; D009962:Orotate Phosphoribosyltransferase; D009964:Orotidine-5'-Phosphate Decarboxylase