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X-linked phosphorylase kinase (PHK) deficiency causes X-linked liver glycogenosis (XLG) which is the most frequent liver glycogen storage disorder in man. Recently we assigned XLG to the Xp22 chromosomal region by linkage analysis in two families segregating XLG. In this study a further localization of XLG in Xp22 was performed by extending the number of(More)
Prenatal diagnosis of metachromatic leucodystrophy (MLD) is based on demonstrating a deficiency of aryl sulphatase A (ASA) in the fetus. To evaluate the place of chorionic villus sampling for prenatal diagnosis of this condition, the properties of ASA were compared in chorionic villi and cultured skin fibroblasts. Considerable differences with respect to pH(More)
Infantile sialic acid storage disease (ISSD: McKusick 26992) is a rare disorder related to Salla disease (McKusick 26874) and sialuria (McKusick 26992). The disorder is caused by progressive accumulation of free sialic acid within lysosomes due to defective efflux (Renlund et al., 1986). This is probably caused by defective transport across the lysosomal(More)
The children of untreated phenylketonuric women have a significantly higher mortality and morbidity than average. The success of neonatal screening for phenylketonuria (PKU) means that an increasing number of healthy intelligent women with PKU are reaching childbearing age and will create a new therapeutic problem for physicians and obstetricians in the(More)
Chorionic villi obtained during the first trimester from a pregnancy at risk for Krabbe's disease were shown to have reduced cerebroside-beta-galactosidase (E.C.3.2.1.46) activity using the artificial substrate trinitrophenylaminolauryl galactocerebroside (TNPAL-galactocerebroside). Assay of this enzyme in cultured amniotic fluid cells following(More)
UDP-galactose-4-epimerase (EC 5.1.3.2) is a key enzyme in the metabolic route by which man metabolises galactose to produce glucose. Its absence will impair the continual action of galactose-l-phosphate uridyl transferase as this enzyme depends upon a constant regeneration of UDP-glucose catalysed by the action of epimerase. In addition a lack of endogenous(More)
We have studied methylmalonyl CoA mutase activity in control chorionic villi to establish the potential use of assays performed directly on this tissue for prenatal diagnosis of methylmalonic aciduria. We report the detection of a fetus affected with the apo-mutase deficient form of this condition at 9 weeks' gestation. Methylmalonyl CoA mutase was markedly(More)