Search PubMed⌕ Search
Home/Archive/PubMed

PubMed · 2731491

DHPR activity decrease in dried blood spots stored at 4 degrees C.

G Lenzi·D Pistone·E Zammarchi·M P Benini·A La Torre·D Matteoni
View original source ↗Export metadata ↓

Abstract

Dihydropteridine reductase (DHPR) activity has been measured in dried blood spots by the Arai method in 286 subjects divided into 4 groups: 45 newborns aged between 4 and 7 days; 40 subjects with hyperphenylalainaemia; 199 apparently normal subjects, and 2 patients with DHPR deficiency. Furthermore, a study of the persistence of enzymatic activity on the spots stored at 4 degrees C revealed that after 1 year it decreased to one third of the original value, corresponding to the mean value of controls minus 2 SD.

Explore related subjects

Amino Acid Metabolism, Inborn ErrorsBlood Specimen CollectionCold TemperatureDesiccationDihydropteridine ReductaseEnzyme StabilityHumansInfant, NewbornNADH, NADPH OxidoreductasesPhenylalaninePhenylketonuriasReference ValuesJournal Article

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

G Lenzi, D Pistone, E Zammarchi, M P Benini, A La Torre, D Matteoni. 1989. DHPR activity decrease in dried blood spots stored at 4 degrees C.. https://doi.org/10.1159/000469049

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed1992

[Biochemical, clinical and genetic analysis of various aminoacidopathies (non-ketotic hyperglycemia, maple syrup urine disease, histidinemia, tyrosinemia)].

The genetical types were classified according to the clinical findings and biochemical results in cases of 13 newborn/children suffering from various aminoacidopathies. The genetical types were: 3 neonatal and 4 infantile types were found out of 7 non-ketotic disease (MSUD) patient was infantile type with 9.1 per cent keto acid decarboxylase activity in leukocyte homogenate. Among the 3 histidinemic patients 1 was severe neonatal type and 2 cases were chronic types. The 2 treated tyrosinemic children proved to be type III. (chronic with rickets).

Amino Acid Metabolism, Inborn Errors↗
PubMed1992

Metabolic studies in a mouse model of hepatorenal tyrosinemia: absence of perinatal abnormalities.

Radiation induced chromosomal deletions at the albino locus in the mouse, lethal when homozygous, cause abnormalities of expression of several unlinked liver specific genes. Recently, the gene encoding FAH was shown to be included in the deletions. Since in humans FAH mutations cause tyrosinemia type I, deletion homozygous mice were suspected of having tyrosinemia. Studies of plasma amino acids did not confirm this suspicion. Also, succinylacetone levels were normal in fetal and newborn livers of deletion homozygotes. The present evidence, therefore, does not support the assumption that the earlier described ultrastructural and enzyme abnormalities in deletion homozygotes are secondary effects of tyrosinemia caused by the deletion of FAH.

Amino Acid Metabolism, Inborn Errors↗