neonatal screening programme has been established in Belgium in 1968, with the systematic screening of all newborns for hyperphenylalaninemia/ phenylketonuria.2 In 1974, five diseases have been added to the screening programme, tyrosinemia, leucinosis, histidinemia, homocystinuria and galactosaemia, followed in 1980 by hypothyroidia.3 In the early
Histidinemia Orphanet: Histidinemia * * * * * * Help * Print * Contact us * * EN * FR * ES * DE * IT * PT * NL * PL * CS Menu * Rare diseases * Search * Clinical Signs and Symptoms * Classifications * Genes * Disability * Encyclopaedia for patients * Encyclopaedia for professionals * Emergency guidelines * Orphan drugs * Search , urine and cerebrospinal fluid, and decreased levels of the metabolite urocanic acid in blood, urine, and the skin. In most individuals with histidinemia, the condition is clinically silent and considered benign, with no need for treatment or a specific diet. In a small subset of patients with specific events in the neonatal period, such as low oxygen, it has been suggested that histidinemia may
Newborn screening in Japan. 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 hypothyroidism was added to the original program. In 1989, screening for congenital adrenal hyperplasia was added and in 1992, screening of histidinemia was discontinued. Currently, screening covers six diseases. The government paid half the cost of screening tests initially and in 2001 this was raised to the full cost (approximately 3000 yen). Parents pay for sample collection. The program is carried out according