William G. van't Hoff

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The outcome for children with severe forms of methylmalonic acidaemia remains poor. Patients have recurrent episodes of metabolic decompensation; many have neurodevelopmental complications and the mortality is high. Long-term survivors develop chronic renal failure. Because of the poor prognosis, transplantation has been considered. In young patients with(More)
We report a case of severe nephrocalcinosis related to hypercalcaemia in a newborn with glucose-galactose malabsorption. He presented with poor growth and was noted to have polyuria, which was later recognised to be severe watery diarrhoea. We discuss the possible aetiological factors for nephrocalcinosis in this condition.
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder involving hearing loss, branchial defects, ear pits and renal abnormalities. Oto-facio-cervical (OFC) syndrome is clinically similar to BOR syndrome, with clinical features in addition to those of BOR syndrome. Mutations in the EYA1 gene (localised to 8q13.3) account for nearly 70% of BOR(More)
3-Methylglutaconic aciduria is frequently found during urine organic acid analysis and is widely regarded as a marker of a mitochondrial disorder, the clinical features of which are very heterogeneous. We describe two siblings with 3-methylglutaconic aciduria in whom renal ultrasonography showed echogenic medullae consistent with nephrocalcinosis. One(More)
Childhood nephrotic syndrome (NS) is frequently characterized by a relapsing course. There is no uniform agreement about the precise stage at which a steroid-sparing agent should be introduced to control the disease. In order to evaluate the treatment strategies and outcome of steroid-sensitive NS over the last 2 decades, a retrospective notes review was(More)
Fifty-nine patients with cystinosis were treated with cysteamine or phosphocysteamine in the United Kingdom up to May 1990. Treatment was started at a median age of 3.2 years (range 0.6–24.8 years) and continued for a median duration of 3.0 years (range 0.01–1.2 years). At the end of the study, 46 (78%) patients remained on treatment. One patient developed(More)
The Fanconi-Bickel syndrome (Fanconi and Bickel 1949) is a rare autosomal recessive disorder for which no precise enzyme defect has been consistently identified. It has variously been thought to be due to a defect in galactose metabolism (Aperia et al 1981; Brivet et al 1983), phosphorylase b kinase deficiency (Sanjad et al 1993) or a mitochondrial(More)
We report an 18-month-old girl who presented in chronic renal failure after an illness characterised by protracted diarrhoea, poor weight gain and anaemia. There were no symptoms and signs suggestive of a renal Fanconi syndrome, but a diagnosis of nephropathic cystinosis was suggested by renal biopsy and confirmed by an elevated leucocyte cystine(More)
Arginase deficiency (McKusick 207800) is the least common of the inborn errors of urea metabolism. Although there is phenotypic variability, most cases present with a progressive spastic quadriplegia that affects the legs more severely. Acute encephalopathy is relatively uncommon, although in retrospect mild symptoms such as irritability are frequent(More)
Early diagnosis and improved medical care of patients with childhood phenylketonuria (McKusick 261600, PKU) have extended the lifespan of PKU patients and some are currently reaching 35 years of age. The present case report describes an incidental finding of severe megaloblastic anaemia in a young phenylketonuric adult on a self-restricted low-phenylalanine(More)