Screening for inherited metabolic disease by plasma chromatography (Scriver) in a large city.
نویسندگان
چکیده
Before introducing a more comprehensive screen such as plasma chromatography, with its potential to detect 20 amino-acid disorders-an advantage over screening methods which detect only phenylketonuria-the greatly increased problems of organization and the effect on the community, midwives, paediatric services, and laboratory should be considered. The three years' experience in Birmingham showed a three-fold increase in cases detected and suggests criteria for further investigation and treatment.
منابع مشابه
Accuracy of the rapid fetal fibronectin TLi system in predicting preterm delivery.
References 1. Webster DR, Becroft DMO, Suttle DP. Hereditary orotic aciduria and other disorders of pyrimidine metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic bases of inherited disease, 7th ed. New York: McGraw-Hill, 1995:1799–837. 2. Potter M, Hammond JW, Sim KG, Green AK, Wilcken B. Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for pro...
متن کاملDiscordant CA 19.9 serum results by microparticle enzyme immunoassay and immunoradiometric assay.
References 1. Johnson JL, Wadman SK. Molybdenum cofactor deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic basis of inherited disease, 6th ed. New York: McGraw-Hill, 1989:1463-75. 2. Wadman SK, Cats BP, deBree PR Sulfite oxidasedeficiency and the detection of urinary sulfite. Eur J Pediatr 1983;14162-8. 3. Mudd SH, Levy HL, Skovby F. Disorders of transsulfuration. In: ...
متن کاملPlasma and urinary amino acids in children with primary hyperoxaluria and in normal children.
The demonstration of an abnormal aminoaciduria or aminoacidaemia may provide a genetic marker in the study of inherited diseases as well as help to elucidate the biochemical abnormalities that are present. The urinary excretions of oxalate and glycollate are increased in primary hyperoxaluria, and there is evidence that the metabolic lesion involves the glycineglyoxylate pathway of glycine meta...
متن کاملSelective Screening of Phenylketonuria, Tyrosinemia and Maple Syrup Urine Disease in Southern Iran
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 ...
متن کاملClinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases.
This paper reviews the clinical applications of tandem mass spectrometry (MS-MS) in diagnosis and screening for inherited metabolic diseases in the last 10 years. The broad-spectrum of diseases covered, specificity, ease of sample preparation, and high throughput provided by the MS-MS technology has led to the development of multi-disorder newborn screening programs in many countries for amino ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- British medical journal
دوره 3 5817 شماره
صفحات -
تاریخ انتشار 1972