Kikumaro Aoki

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A novel therapeutic strategy for phenylketonuria (PKU) has been initiated in Japan. A total of 12 patients who met the criteria for tetrahydrobiopterin (BH4)-responsive hyperphenylalaninemia (HPA) with a mutant phenylalanine hydroxylase (PAH) (EC 1.14.16.1) gene were recruited at 12 medical centers in Japan between June 1995 and July 2001. Therapeutic(More)
  • Kikumaro Aoki
  • The Southeast Asian journal of tropical medicine…
  • 2003
In the 1970's, the government began to take steps for the treatment of congenital diseases. Mass newborn screening was started in October 1977 throughout Japan in order to detect five inborn errors of metabolism including phenylketonuria, maple syrup urine disease, homocystinuria, histidinemia, and galactosemia. In 1979, mass screening for congenital(More)
  • Kikumaro Aoki
  • The Southeast Asian journal of tropical medicine…
  • 2003
A newborn mass-screening program for the early detection of phenylketonuria, maple syrup urine disease, homocystinuria, galactosemia, congenital hypothyroidism, congenital adrenal hyperplasia, using filter paper blood specimens, was started throughout Japan in 1977. The total number of newborns screened by March 2000 reached 29,657,738; this represents 95%(More)
The objective of this report is to determine the need for and value of the long-term follow-up study of phenylketonuria (PKU) patients detected by newborn screening (NBS) in Japan. NBS was started in 1977 and the nationwide follow-up study of the identified patients was introduced into the NBS system. Outcome data from the continuous follow-up study showed(More)
A nationwide neonatal sreening program for phenylketonuria (PKU), maple syrup urine disease (MSUD), homocystinuria, histidinemia and galactosemia was started in Japan in 1977. The total number of infants screened had reached 6,311,754 by March, 1982. A follow-up study revealed the incidence of the disease in Japan: 1/108,823 for PKU; 1/450,840 for(More)
Low-phenylalanine formula for phenylketonuria (PKU) made from free amino acids as a protein source (AAM formula) has a poor taste and smell. We developed a more palatable formula using low-phenylalanine peptide (LPP) as a protein source. Palatability tests performed by 41 healthy adults confirmed that the palatability of LPP formula was significantly better(More)
OBJECTIVE Seasonality in the incidence of congenital hypothyroidism (CH) has been reported in several countries. The objective of this study was to examine whether seasonality was also observable in Japan and whether this seasonality affected genders differently. METHODS Confirmed primary CH cases (n = 1586) occurring between 1994 and 2003 were examined(More)
BACKGROUND Much remains unknown regarding extrathyroidal congenital malformations (ECMs) in patients with primary congenital hypothyroidism (PCH) and Down syndrome (DS). Here, we investigated the frequency of ECMs in patients with PCH, particularly among patients with or without DS. METHODS In a retrospective review of questionnaires based on medical(More)
OBJECTIVE To investigate the time trend and geographic distribution of treated patients with congenital hypothyroidism (CH) and explore their possible relationship to the availability of endocrinologists in Japan. STUDY DESIGN The 2-source capture-recapture method was used to estimate the total number of patients. The ratio of the total estimated number(More)
BACKGROUND The growth of patients with congenital hypothyroidism detected by neonatal screening in Japan was investigated. The data investigated were obtained from Medical Aid Program for Chronic Pediatric Diseases of Specified Categories registered in 2002. METHOD The present study included 2341 patients (1030 male, 1311 female) registered as having(More)