Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100'000 -150,000. Patients present either shortly after birth with acute deterioration, metabolic...

patients with organic acidemia are prone to different infections, which lead to acidosis episodes. some studies have evaluated the status of immune system in acidotic phase in these patients, but to the best of our knowledge no study has evaluated the immune system in non-acidotic phase of the disease. in this study, thirty-one patients with organic acidemia were enrolled. for evaluation of hum...

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Patients with organic acidemia are prone to different infections, which lead to acidosis episodes. Some studies have evaluated the status of immune system in acidotic phase in these patients, but to the best of our knowledge no study has evaluated the immune system in non-acidotic phase of the disease. In this study, thirty-one patients with organic acidemia were enrolled. For evaluation of hum...

BACKGROUND Liver transplantation for inherited metabolic disorders aims to save the patient's life when the disorder is expected to progress to organ failure, and to cure the underlying metabolic defect. METHODS We retrospectively analyzed 146 pediatric liver transplants (28 metabolic; 118 non-metabolic) performed between 1986 and 2000. RESULTS Twenty-eight transplants were performed in 24 ...

TADA, K. and ARAKAWA, Ts. Hyperglycinemia and propionate carboxylation. Tohoku J. exp. Med., 1970, 102 (3), 313-314 The oxidation of propionate and methylmalonate was investigated in leukocytes from a patient with hyperglycin emia. It was found that the patient's leukocytes could oxidize both propionate and methylmalonate normally. These findings suggest that hyperglycinemia con sists of primar...