Cellular Immune Deficiency in Two Siblings with Hereditary Orotic Aciduria

Increase of protein synthesis by uridine supplement in lectin-stimulated peripheral blood lymphocytes and EB virus-transformed B cell line of hereditary orotic aciduria type I.

“…Levels of serum immunoglobulin were normal for her age. Total lymphocytes were 1,760/mm3 with low number of OKT3 positive lymphocytes and high number of OKIal positive lymphocytes as in the patients reported by Girot et al (1983). Although megaloblastic anemia, excessive excretion of orotic acid, lymphopenia and decreased number of OKT3 positive lymphocytes were corrected at 8 month-old after 5 months uridine therapy (Fig.…”

“…The cases whom Girot et al (1983) reported had lymphopenia, low number of OKT3 positive lymphocytes, a decrease in T-cellmediated lymphocytolysis and an absence of PWM-induced plasma cell generation, although the case reported whom by Becroft et al (1984) had no immunological abnormalities.…”

“…An immune deficiency has been suspected, although there are conflicting reports (Girot et al 1983(Girot et al , 1984Becroft et al 1984).…”

“…Three of twelve patients with this disease died from varicella or meningitis (Huguley et al 1959;Fox et al 1969;Girot et al 1983). An immune deficiency has been suspected, although there are conflicting reports (Girot et al 1983(Girot et al , 1984Becroft et al 1984).…”

Megaloblastic Anemia—A Rare Cause

“…Thiamine responsive megaloblastic anemia, associated with sensorineural deafness and diabetes mellitus has been reported [2]. Disorder of pyrimidine metabolism, as a cause of megaloblastic anemia, is even rarer with only a few reported cases [3][4][5]. The authors report a rare case of megaloblastic anemia, due to orotic aciduria, a disorder of pyrimidine metabolism.…”