[Propionic acidemia: report of a case that is successfully managed by peritoneal dialysis and sodium benzoate therapy].
Propionic acidemia is a rare hereditary disease which is an autosomal recessive disorder. Defect of propionyl CoA carboxylase results in abnormal accumulation of propionate and its metabolites which interfere the pathway of glycine cleavage and the urea cycle. This organic acidemia is characterized by a wide spectrum of clinical and biochemical findings, including recurrent vomiting, difficult feeding, lethargy, hypotonia, metabolic ketoacidosis, hyperglycinemia and hyperammonemia during the acute episodes. We present a male newborn infant who sustained this disorder and was managed successfully with blood exchange transfusion, peritoneal dialysis, supplemented with sodium benzoate and sodium bicarbonate therapy. Urine gas chromatography disclosed significant elevation of propionate and its metabolites which subsided 2 days after peritoneal dialysis. Special designed formula was then given with restriction of protein intake and supplement with sodium benzoate and sodium carbonate. Prenatal genetic counseling is necessary in further pregnancy. Diagnosis can be obtained when propionyl CoA carboxylase activity is low in cultured amniotic fluid cells or chorion villi sample or when there is abnormally high methylcitrate level in amniotic fluid.
Hsu
W C
WC
Department of Pediatrics, Mackay Memorial Hospital, Taipei, R.O.C.
Lin
S P
SP
Huang
F Y
FY
Wang
P A
PA
Hsiao
K J
KJ
D001565:Benzoates / Q000627:therapeutic use*; D019817:Benzoic Acid; D002262:Carboxy-Lyases / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D043586:Methylmalonyl-CoA Decarboxylase; D010530:Peritoneal Dialysis; D011422:Propionates / Q000097:blood*
D001565:Benzoates; D011422:Propionates; D019817:Benzoic Acid; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase; C029658:propionic acid