Clinical Findings in Four Children with Biotinidase Deficiency Detected through a Statewide Neonatal Screening Program
نویسندگان
چکیده
منابع مشابه
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.
Four children with biotinidase deficiency were identified during the first year of a neonatal screening program for this disease in the Commonwealth of Virginia. Two unrelated probands were identified among the 81,243 newborn infants who were screened. In addition, two siblings of one of these infants were found to be affected. Both probands had mild neurologic symptoms at two and four months, ...
متن کاملDiagnosis, treatment and follow-up in four children with biotinidase deficiency from Pakistan.
Biotinidase deficiency is an inherited disorder in which the vitamin biotin is not recycled. If untreated, affected individuals develop neurological and cutaneous symptoms. Untreated individuals with biotinidase deficiency either succumb to disease or are left with significant morbidity. We describe clinical course and follow-up of 4 children from Pakistan. All 4 presented with classical sympto...
متن کاملOne-Year Follow-Up of Radiologic and Clinical Findings in Children with Prenatal and Neonatal Hydronephrosis
Background & Aims: Hydronephrosis is a common problem in prenatal and newborn infants diagnosed by ultrasonography. Bladder to ureter reflux, the upper or lower urinary tract obstruction, and neurogenic bladder are the most common causes of hydronephrosis in newborns and infants. Methods: In this study, 100 neonates and infants with hydronephrosis were observed clinically and laboratorically fo...
متن کاملBH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia.
OBJECTIVES To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais. METHODS Descriptive study of patients with BH4 deficiency identified by the Neonatal Screening Program of the State of Minas Gerais. RESULTS The prevalence found was 2.1 for 1,000,000 live ...
متن کاملNeonatal screening for biotinidase deficiency: A 30-year single center experience
We reviewed the outcome of newborn screening for biotinidase deficiency performed at our department since 1987. Among 1,097,894 newborns screened, 461 were recalled, and 18 were identified as affected by complete or partial biotinidase deficiency (incidence 1:61,000, false positive rate 0.04%). The common missense mutation Q456H was found in 80% of patients with profound biotinidase deficiency....
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ژورنال
عنوان ژورنال: New England Journal of Medicine
سال: 1985
ISSN: 0028-4793,1533-4406
DOI: 10.1056/nejm198507043130104