B. J. H. M. Poorthuis

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We have calculated the relative frequency and the birth prevalence of lysosomal storage diseases (LSDs) in The Netherlands based on all 963 enzymatically confirmed cases diagnosed during the period 1970–1996. The combined birth prevalence for all LSDs is 14 per 100,000 live births. Glycogenosis type II is the most frequent LSD with a birth prevalence of 2.0(More)
Mucopolysaccharidosis type III (MPS III, Sanfilippo syndrome) is an autosomal recessive disorder, caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of the glycosaminoglycan heparan sulfate. Based on the enzyme deficiency, four different subtypes, MPS IIIA, B, C, and D, are recognized. The genes encoding these four(More)
Fabry disease, or α-galactosidase A (α-Gal A) deficiency, is a lysosomal storage disorder in which accumulation of globotriaosylceramide (Gb3) is thought to be responsible for the development of renal, cardiac and cerebral complications. The availability of enzyme replacement therapy has led to an increased awareness and the screening of patients suffering(More)
We have identified a common mutation (R245H) in the sulphamidase gene of Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA, MPS IIIA) patients from The Netherlands. Allele-specific oligonucleotide hybridization was used to determine the incidence of this mutation in 45 unrelated MPS IIIA patients from different regions of The Netherlands. R245H(More)
Adenylosuccinase deficiency presenting with epilepsy in early infancy P.D. Maaswinkel-Mooij1*, L. A. E. M. Laan2, W. Onkenhout1, O. F. Brouwer2, J. Jaeken3 and B. J. H. M. Poorthuis1 Departments of 1Pediatrics and 2Neurology, Leiden University Hospital, Leiden, The Netherlands; 3Department of Pediatrics, University Hospital Gasthuisberg, Leuven, Belgium(More)
5-Oxoprolinuria is primarily associated with inborn errors of the γ-glutamyl cycle. In addition, transient 5-oxoprolinuria has been reported to occur in a variety of conditions, such as prematurity and malnutrition, and during medication. We report an unusual case of permanent 5-oxoprolinuria. The patient presented 3 days after birth with acidosis, and(More)
Metabolic studies are described in a patient who presented at 3 weeks of age with severe anaemia, hyperbilirubinaemia and hypotonicity. Clinically, glycogen storage disease type II (Pompe disease) was suspected because of a massively enlarged heart and hepatosplenomegaly. This was confirmed biochemically by the demonstration of glycogen accumulation in(More)
We specifically probed the low-density lipoprotein-receptor-dependent endosomal/lysosomal pathway of lipid degradation in control and mucolipidosis type IV fibroblasts using either [choline-methyl-14C]sphingo-myelin in complex with apolipoprotein E, or cholesteryl [14C]oleate-labelled low-density lipoprotein as a substrate. Mucolipidosis type IV fibroblasts(More)
Two previously healthy women are described who in their late thirties suffered transient strokelike episodes, consisting of initial headache and vomiting, with various subsequent neurological signs that were only partially reversible. Investigations revealed elevated serum creatine kinase, lactic acidosis, hypertriglyceridaemia, and ragged red fibres in the(More)