Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

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Query: EC:3.5.1.12 (biotinidase)
392 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In Portugal the screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) was begun towards the end of 1979, and by 1990 59 cases of PKU and 227 cases of CH had been detected. The early initiation of treatment and the observed mental and motor development, point towards a normal development in these children. A trial screen for congenital adrenal hyperplasia was carried out in 100.000 newborns, from which it was concluded that, under the present conditions, screening at a national level is not justified. A similar study is currently being undertaken for biotinidase deficiency and cystic fibrosis. The results ares discussed, as are the cost/benefits evaluations.
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PMID:[National screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia]. 159 80

Genetic metabolic screening in newborn infants includes both specific testing for clinical indications in sick neonates and routine newborn screening. The decision of which sick neonates should have metabolic testing is based on the clinical phenotype and the results of general laboratory analyses, with particular attention to hypoglycemia, metabolic acidosis, and hyperammonemia. Metabolic tests include analyses for amino acids and organic acids and a carnitine profile. Routine newborn screening should be performed on all neonates prior to hospital discharge but no later than the 3rd day of life. The disorders covered by newborn screening vary among the states and among countries but virtually always include phenylketonuria and congenital hypothyroidism and often include sickle cell disease and galactosemia. Other metabolic disorders that may be included in newborn screening are maple syrup urine disease, homocystinuria, biotinidase deficiency, and congenital adrenal hyperplasia.
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PMID:Current approaches to genetic metabolic screening in newborns. 784 19

The newborn screening programme in Bavaria was confronted with several problems. Number of disorders and process quality no longer complied with screening guidelines. Mixed financing, distributed between the state (PKU, galactosaemia) and health insurances (hypothyroidism) had promoted an increasing dissipation of the system. Notified participation rates had dropped to < 80%. Increasing need for a second screening due to early discharge was an additional challenge. To overcome these problems, and considering the availability of improved screening methodology (tandem mass spectrometry) the programme was reorganised. The project, which started on Jan 1, 1999, is based on a cooperation model between laboratory (logistics, analysis), universities (treatment, scientific evaluation), and public health services (coordination, tracking). Time of blood sampling was predated to the third day of life. Screening was extended to biotinidase deficiency, congenital adrenal hyperplasia (CAH) and by introduction of tandem mass spectrometry for screening of many other disorders (besides PKU). Insurances now finance complete laboratory analysis which was transferred to the private sector. To enable all newborn to participate, the names of screened children are matched against birth lists by public health services on a regional basis. Recalls and conspicuous results are consistently followed up until disorders are either excluded or confirmed. Two clinical hotlines were established in the children's hospitals of the universities in Munich (Southern Bavaria) and in Erlangen (Northern Bavaria). Written consent is required for participation in the programme. Participation in the new programme could be continually increased; coverage is > 95% since April. In several cases screening was made up for not tested children by contacting their parents. Omitted screening was mostly due to misunderstandings regarding testing responsibility or lost samples. Altogether 52 cases of disorder were found in the 87,000 newborn screened until August 1999. Hence, the detection rate of children affected by inborn errors of metabolism was about twice as high than before changes. Among the newly screened diseases CAH was detected most often (11 cases). In 22 cases diagnosis was based on the use of tandem mass spectrometry. Among these (besides PKU, 9 cases) MCAD deficiency (6 cases) was detected most frequently. Whereas recall rates of most disorders were < 0.1%, screening for CAH still revealed a high recall rate, particularly in premature births. Second screening due to early discharge (< 48 h) was required in 1.3%. About 20% of pending recalls required contacting birth hospitals, doctors, midwives or parents. So far all affected children could be brought to treatment in time.
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PMID:[Model project for updating neonatal screening in Bavaria: concept and initial results]. 1084 15

The Health Council of the Netherlands has published an advisory report on neonatal screening in view of developments in diagnostics, therapy and the prevalence of neonatal diseases. Currently it involves screening for phenylketonuria, congenital hypothyroidism and congenital adrenal hyperplasia. Because screening may lead to considerably better outcomes in affected newborns, the council recommends expanding current screening to include medium-chain acyl-CoA dehydrogenase deficiency, sickle-cell disease and 12 other rare disorders: biotinidase deficiency, galactosaemia, glutaricaciduria type I, HMG-CoA lyase deficiency, holocarboxylase-synthetase deficiency, homocystinuria, isovaleric-acidaemia, long-chain hydroxyacyl-CoA dehydrogenase deficiency, maple syrup urine disease, 3-methylcrotonyl-CoA carboxylase deficiency, tyrosinaemia I and very-long-chain acyl-CoA dehydrogenase deficiency. A better detection method for cystic fibrosis must be developed before it is included in screening to restrict the number of sweat-test referrals of unaffected newborns. The council recommends providing information on neonatal screening during pregnancy and gives special attention to the possibility of detecting carriership in the parents.
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PMID:[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]. 1639 64

Newborn screening fact sheets were last revised in 1996 by the American Academy of Pediatrics Committee on Genetics. This revision was prompted by advances in the field since 1996, including technologic innovations, as well as greater appreciation of ethical issues such as those surrounding informed consent. The following disorders are discussed in this revision of the newborn screening fact sheets: biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies, and tyrosinemia. A series of topics related to newborn screening is discussed in a companion publication to this electronic publication of the fact sheets (available at: www.pediatrics.org/cgi/content/full/118/3/1304). These topics are newborn screening as a public health system; factors contributing to the need for review of the newborn screening system; informed consent; tandem mass spectrometry; DNA analysis in newborn screening; status of newborn screening in the United States; and the effect of sample timing, preterm birth, diet, transfusion, and total parenteral nutrition on newborn screening results.
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PMID:Newborn screening fact sheets. 1695 Sep 73

Newborn screening fact sheets were last revised in 1996 by the Committee on Genetics of the American Academy of Pediatrics. These fact sheets have been revised again because of advances in the field, including technologic innovations such as tandem mass spectrometry, as well as greater appreciation of ethical issues such as informed consent. The fact sheets provide information to assist pediatricians and other professionals who care for children in performing their essential role within the newborn screening public health system. The newborn screening system consists of 5 parts: (1) newborn testing; (2) follow-up of abnormal screening results to facilitate timely diagnostic testing and management; (3) diagnostic testing; (4) disease management, which requires coordination with the medical home and genetic counseling; and (5) continuous evaluation and improvement of the newborn screening system. The following disorders are reviewed in the newborn screening fact sheets (which are available at www.pediatrics.org/cgi/content/full/118/3/e934): biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia,homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A dehydrogenase deficiency, phenylketonuria, sickle cell disease and other hemoglobinopathies,and tyrosinemia.
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PMID:Introduction to the newborn screening fact sheets. 1696 Sep 84

This report outlines the status of neonatal screening in Europe in 2004. Out of the 45 member states of the Council of Europe plus the regions Scotland and Wales (in total 47 'countries'), no data at all were available from 3 (Albania, Azerbaijan and Georgia). From the other 44, varying amounts of data were received. Apart from Armenia, Finland and Malta, all countries have a national programme for phenylketonuria (PKU), although in some countries those programmes do not yet have 100% coverage. Moldova and Ukraine have no national programme for congenital hypothyroidism (CH), the other countries do. Twelve countries screen for congenital adrenal hyperplasia (CAH), 6 for cystic fibrosis (CF) and 7 for galactosaemia (GAL), 6 for biotinidase deficiency (BD) and 4 for medium-chain acyl-CoA dehydrogenase deficiency (MCAD). Some countries have pilot programmes for certain conditions or different programmes per screening laboratory. The prevalences for PKU vary from 1:3000 to 1:30,000, and for CH from 1:1300 to 1:13,000. Methodologies vary within and between countries. There appears to be no relationship between the cut-off limits and the recall rate. A first priority is to help those countries where the basic screening programmes have less than 100% coverage. In addition, continuous monitoring of the European programmes will help to decrease the variation in design and methodology by making use of the knowledge and expertise available from the global membership of the International Society for Neonatal Screening (ISNS). The huge difference of recall rates illustrate one obvious and important area for improvement of programme performances that could be aided by strengthened European cooperation.
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PMID:Neonatal screening in Europe; the situation in 2004. 1761 47

The purpose of neurometabolic screening is the earliest possible detection of treatable disorders. The disorders currently offered to general population screening are phenylketonuria, congenital hypothyroidism, galactosemia, congenital adrenal hyperplasia, cystic fibrosis, biotinidase deficiency, maple syrup urine disease, sickle cell disease, homocystinuria. The methods used for these evaluations are mass spectroscopy and genetic testing.
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PMID:[Updating neonatal neurometabolic screening]. 1924

In Greece, the National Newborn Screening Program was initiated in 1974 and is performed by the Institute of Child Health (ICH). However, there is a complete absence of conditions that have high rates of mortality and a relatively high prevalence listed in the Catalogue of Disorders screened by the ICH. Our laboratory has expanded the existing NBS program to include newborn screening for inborn errors of metabolism, screening for cystic fibrosis (the most common congenital disorder in the Greek population), congenital adrenal hyperplasia, and for biotinidase deficiency. From July 2007 to December 2009, 45,000 dried blood spots (DBS) were collected from infants born in Athens, Greece, and were analyzed. We present a report of our 30-month experience in the newborn screening area. The samples were tested for amino acidopathies, fatty acid oxidation disorders (FAOD), and organic acid metabolic disorders by applying flow injection analysis-electrospray ionization-tandem mass spectrometry (FIA-ESI-MS/MS); for cystic fibrosis by immunoreactive trypsinogen (IRT) measurement (time-resolved fluoroimmunoassay); for congenital adrenal hyperplasia by fluoroimmunoassay to measure the 17 hydroxy-progesterone level; and for biotinidase deficiency using a colorimetric method and a semiquantitative fluoroimmunoassay to determine biotinidase activity. Sample analysis resulted in establishing cutoff values for the respective disease markers for the first time in the Greek population. Four infants were identified with cystic fibrosis, two with congenital adrenal hyperplasia, two with phenylketonuria (PKU), one with medium-chain acyl CoA dehydrogenase deficiency (MCADD), and one with biotinidase deficiency. To the best of our knowledge, this is the first article reporting the status of expanded newborn screening in Greece.
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PMID:Expanded newborn screening in Greece: 30 months of experience. 2072 92

Expanding newborn screening beyond that for phenylketonuria was always the goal of Guthrie once phenylketonuria screening was on solid ground. He succeeded in this effort to an extent, adding screening for galactosemia, maple syrup urine disease, and homocystinuria. Screening for congenital hypothyroidism, congenital adrenal hyperplasia, biotinidase deficiency, and a few additional disorders was added by others over the years. However, a very large expansion of covered metabolic disorders eluded Guthrie despite his best efforts. This required a new screening technology, tandem mass spectrometry, which was not available until recently. Now, almost all developed newborn screening program use tandem mass spectrometry to cover the 29 metabolic disorders recommended for coverage by the American College of Medical Genetics and additional secondary disorders. The results have in some cases been spectacular in preventing or greatly reducing the burden of disease imposed by many of the screened disorders. However, expanded newborn screening has also brought problems that need to be addressed. These include lack of knowledge about the natural history of some of the disorders, absence of effective preventive therapy for others, identification of seemingly benign disorders or benign variants of severe disorders, and the resulting parental anxiety. To address these and other issues brought by expanded newborn screening, a national effort led by the American College of Medical Genetics has been developed. This effort known as the Newborn Screening Translational Research Network seeks to stimulate research, advocate pilot screening programs for proposed new additions to screening, and develop a protocol-based systematic long-term follow-up of infants identified in expanded screening programs. Upon the outcome, this critical effort will depend on the health and well-being of children throughout the United States.
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PMID:Newborn screening conditions: What we know, what we do not know, and how we will know it. 2115 Mar 66


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