Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
نویسندگان
چکیده
We describe a method of screening for dihydropteridine reductase deficiency and dihydrobiopterin synthesis deficiency--the two inherited defects that cause tetrahydrobiopterin deficiency--using blood spots on Guthrie cards. Dihydropteridine reductase deficiency may be identified positively, and a biopterin value of less than 6.0 micrograms/l in the presence of hyperphenylalaninaemia indicates further investigation for dihydrobiopterin synthesis deficiency.
منابع مشابه
Archived Unfrozen Neonatal Blood Spots Are Amenable to Quantitative Gene Expression Analysis
BACKGROUND State laws in the USA mandate that blood be drawn from all newborn infants to screen for health-threatening conditions. These screening assays consume only a small portion of the blood samples, which are collected on filter paper ('Guthrie') cards. Many states archive unused blood spots, often in unrefrigerated storage. OBJECTIVES While individual RNA transcripts have been identifi...
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عنوان ژورنال:
- Archives of disease in childhood
دوره 59 1 شماره
صفحات -
تاریخ انتشار 1984