115 research outputs found
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene
No full textAcute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficit of porphobilinogen deaminase (PBGD), the third of eight enzymes in the haem biosynthetic pathway. The overt disease is characterized by neuropsychiatric symptoms that are often triggered by exogenous factors such as certain drugs, stress, and alcohol. The aim of this work has been to identify the underlying genetic defect in each AIP-affected family in order to provide early counselling to assist in the avoidance of precipitating factors. The prevalence of AIP in Sweden is in the order of 1:10 000. The major mutation in Sweden, W198X, is due to a founder effect in the northern part of the country. This mutation, together with a further 11 mutations, have been reported previously. The present communication encompasses the great majority of AIP kindreds in Sweden and includes a further 27 mutations within the PBGD gene. This includes 14 completely new mutations, as well as 11 known mutations detected for the first time in Sweden. The majority of the mutations are located in exons 10 and 12 with fewer in exon 7. The clinical and biochemical outcomes in some patients are described. We also use the three-dimensional structure of the porphobilinogen deaminase enzyme to predict the possible molecular and functional consequences of the new Swedish missense and nonsense mutations
Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria
No full textMolecular nature of beta-galactosidase from different tissues in two strains of the house mouse.
No full textTissue differences and molecular properties of beta-galactosi- dase variation in the mouse. Abstr.
No full textThe prevalence of hepatitis C in patients with porphyria cutanea tarda in Stockholm, Sweden
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EVIDENCE FOR A MAJOR LOCUS AS WELL AS A MULTIFACTORIAL COMPONENT IN THE REGULATION OF HUMAN RED-BLOOD-CELL CATECHOL-O-METHYL-TRANSFERASE ACTIVITY
No full textEnrichment of <i>HFE</i> mutations in Swedish patients with familial and sporadic form of porphyria cutanea tarda
No full textGENETIC-REGULATION OF THE RED-CELL UROPORPHYRINOGEN-I-SYNTHETASE LEVEL IN FAMILIES WITH ACUTE INTERMITTENT PORPHYRIA
No full textGenetic regulation of the red cell uroporphyrinogen-l-synthetase level in families with acute intermittent porphyria
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