Clinical features and management of organic acidemias in Japan.
Organic acidemias (OAs) are rare inborn errors of metabolism. The clinical presentations of methylmalonic acidemia (MMA) and propionic acidemia (PA) in Japan have not yet been examined in detail. We aimed to investigate the clinical presentations of OAs in Japan and evaluate current therapies for improving long-term outcomes, especially in MMA and PA cases. Questionnaires were sent to 928 institutions in 2009 inquiring about OAs, and secondary questionnaires were sent to those who confirmed that they had diagnosed and/or treated such cases; 119 cases were eventually included for analysis. In Japan, the majority of OAs was MMA, which was associated with a high mortality rate. The survival rates at 20 years of age in vitamin B12-unresponsive MMA, vitamin B12-responsive MMA and PA patients were 69.8%, 94.4% and 95.8%, respectively. Factors associated with mortality in MMA were failure to thrive, hypoglycemia and pancreatitis. Factors associated with mental retardation in vitamin B12-unresponsive MMA, vitamin B12-responsive MMA, and PA were seizure and liver dysfunction, seizure and failure to thrive, and failure to thrive, respectively. We advocated that avoiding failure to thrive due to too restricted protein diet, hypoglycemia and pancreatitis associated with mortality lead to improve outcome, especially in vitamin B12-unresponsive MMA patients.
Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
Daisuke
D
Fujisawa
Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
Kimitoshi
K
Nakamura
Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
Hiroshi
H
Mitsubuchi
Division of Pediatrics, Sendai City Hospital, Sendai, Japan.
Toshihiro
T
Ohura
School of Nursing, Faculty of Medical Sciences, University of Fukui, Fukui, Japan.
Yosuke
Y
Shigematsu
Department of Pediatric Endocrinology and Metabolism, Children's Medical Center, Osaka City General Hospital, Osaka, Japan.
Tohru
T
Yorifuji
Department of Transplantation Surgery, National Center for Child Health and Development, Tokyo, Japan.
Mureo
M
Kasahara
Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan.
Reiko
R
Horikawa
Department of Pediatrics, Kumamoto University Graduate School of Medical Sciences, Kumamoto, Japan.
Fumio
F
Endo
D000293:Adolescent; D000328:Adult; D000592:Amino Acid Metabolism, Inborn Errors / Q000188:drug therapy* / Q000401:mortality; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D056693:Propionic Acidemia / Q000188:drug therapy* / Q000401:mortality; D015996:Survival Rate; D014805:Vitamin B 12 / Q000627:therapeutic use*; D055815:Young Adult
D014805:Vitamin B 12