Screening for Inherited Metabolic Disorders: A New Look at Metabolic Screening Tests
نویسندگان
چکیده
منابع مشابه
Newborn Screening for inherited metabolic disorders; news and views
Newborn screening is important for the early detection of many congenital genetic and metabolic disorders, aimed at the earliest possible recognition and management of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder. This comprehensive system includes; testing, education, follow up, diagnosis, treatment, management, and ev...
متن کاملMedical Progress Newborn Screening for Metabolic Disorders
ur lives are often directed by chance occurrences. For Robert Guthrie, a lifelong interest in the cause of mental retardation came from a retarded son and a dedication to preventing mental retardation in phenylketonuria (PKU) came from the diagnosis of PKU in his wife’s mentally retarded niece. From these roots came Guthrie’s introduction f newborn screening for PKU 3 and, subsequently, to the ...
متن کاملNeonatal Expanded Screening For Inherited Metabolic Diseases: Planning By Simulation
Inherited metabolic diseases are rare but may cause severe damages if not cared for in time. A neonatal screening program, including a first quick test to all newborns and a second accurate test for patients with positive results, is being planned in Veneto region, northeast Italy. A simulation model describing all operations has been built and implemented with the scope of giving suitable dime...
متن کاملScreening for inherited metabolic disorders in patients with Familial Mediterranean Fever
Introduction Familial Mediterranean fever (FMF) is an autosomal recessive auto-inflammatory disease, presenting with recurrent episodes of fever and polyserositis. Diagnosis of FMF is may be challenging especially in pediatric population. Mitochondrial fatty acid oxidation disorders and porphyrias can present with periodic abdominal and muscle pain. Incidence of both FMF and inherited metabolic...
متن کاملGene Therapy for Inherited Metabolic Disorders in Companion Animals Inherited Metabolic Disorders in Companion Animals
Scientists fi rst described inborn errors of metabolism, also termed inherited disorders of metabolism, early in the 20th century and since then have determined the biochemical and genetic bases of a great number of these disorders both in humans and in an increasing number of companion animals. The availability of metabolic screening tests has advanced the biochemical and genetic characterizat...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Annals of Clinical Biochemistry: International Journal of Laboratory Medicine
سال: 1972
ISSN: 0004-5632,1758-1001
DOI: 10.1177/000456327200900151