Coordinated System for Comprehensive Newborn Metabolic Screening
Paul M. FernhoffNANCY FITZMAURICEJeanne MilnerCYNTHIA T. McEWENPhilip P. DembureANN L. BROWNLynette WrightPhyllis B. AcostaLouis J. Elsas
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Abstract:
In September 1978 phenylketonuria (PKU) screening in the state of Georgia was expanded to include testing for five additional metabolic disorders. Our goal was to begin therapy within the first three weeks of an infant's life. During the first 22 months, 167,458 specimens were received; 151,250 from infants less than or equal to 1 week of age. During this period 157,893 live births were reported. More than 90% of 2,299 infants with abnormal screening results were retested. The number of cases and incidence of each disease detected were hyperphenylalaninemia, five (1/31,579); maple syrup urine disease, 0 (0/151,250); homocystinuria, one (1/151,250); galactosemia, two (1/63,352); transient tyrosinemia (greater than or equal to 12 mg/dl), 50 (1/3,158); primary congenital hypothyroidism, 17 (1/7,453); and thyroid binding globulin deficiency, ten (1/12,670). For eight children with either hyperphenylalaninemia, homocystinuria, or galactosemia, the average time for retrieval between the initial abnormal screening result ad the first follow-up test was 6.2 days (range three to ten days). Therapy was started by 9.9 days of age (range seven to 17). For the 17 children with congenital hypothyroidism, the retrieval time was 11.6 days (range three to 27) and treatment began by 21.3 days of age (range ten to 69 days).Keywords:
Tyrosinemia
Hyperphenylalaninemia
Homocystinuria
Galactosemia
Congenital hypothyroidism
Inborn errors of amino-acids metabolism and other inherited Mendeliandisorders are common in the MiddleEast. The number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques. The aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria (PKU), tyrosinemia, and maple syrup urine disease (MSUD) in Fars Province, South of Iran. Using a high performance liquid chromatography, 1044 patients with signs and symptoms suggestive of PKU, tyrosinemia and MSUD were investigated between 1996 and 2001, for the presence of the disorders. Of 1044 patients, 43 cases (4.1%) with PKU, 15 (1.4%) with tyrosinemia and 6 (0.6%) with MSUD were diagnosed. The incidence rates of PKU, tyrosinemia and MSUD were found to be 27.2 , 9.4, and 4.7 per 100,000 births, respectively. The incidence rates of PKU, tyrosinemia and MSUD in our region is higher than the rates reported from Europe presumably because of the relatively higher rates of consanguinity.
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Phenylalanine, the direct precursor of tyrosine, is rarely increased in tyrosinemia I. We report on a case of tyrosinemia type I diagnosed through neonatal hyperphenylalaninemia. This case report points out the need for a biological evaluation of the hepatic function in cases of neonatal hyperphenylalaninemia.
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Abstract This report describes the results of neonatal mass screening in Japan for PKU, maple syrup urine disease, histidinemia, homocystinuria, galactosemia, inborn errors of urea cycle metabolism and congenital hypothyroidism. The incidence of PKU is low but the incidence of histidinemia is somewhat high compared to that in the United States. Some genetic variants of each of these inborn errors of metabolism such as malignant hyperphenylalaninemia or mild form of MSUD have been detected in the neonatal screening. Clinical values of the screening for each of these in born errors of metabolism are discussed.
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In September 1978 phenylketonuria (PKU) screening in the state of Georgia was expanded to include testing for five additional metabolic disorders. Our goal was to begin therapy within the first three weeks of an infant's life. During the first 22 months, 167,458 specimens were received; 151,250 from infants less than or equal to 1 week of age. During this period 157,893 live births were reported. More than 90% of 2,299 infants with abnormal screening results were retested. The number of cases and incidence of each disease detected were hyperphenylalaninemia, five (1/31,579); maple syrup urine disease, 0 (0/151,250); homocystinuria, one (1/151,250); galactosemia, two (1/63,352); transient tyrosinemia (greater than or equal to 12 mg/dl), 50 (1/3,158); primary congenital hypothyroidism, 17 (1/7,453); and thyroid binding globulin deficiency, ten (1/12,670). For eight children with either hyperphenylalaninemia, homocystinuria, or galactosemia, the average time for retrieval between the initial abnormal screening result ad the first follow-up test was 6.2 days (range three to ten days). Therapy was started by 9.9 days of age (range seven to 17). For the 17 children with congenital hypothyroidism, the retrieval time was 11.6 days (range three to 27) and treatment began by 21.3 days of age (range ten to 69 days).
Tyrosinemia
Hyperphenylalaninemia
Homocystinuria
Galactosemia
Congenital hypothyroidism
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