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Chapter
Amino Acid Profiles in Patients with Urea Cycle Disorders at Admission to Hospital due to Metabolic Decompensation
Urea cycle disorders (UCDs) result from inherited defects in the ammonia detoxification pathway, leading to episodes of hyperammonaemia and encephalopathy. The purpose of this study was to answer the question,...
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Article
Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening
Background: Glutaric aciduria type I (GA I) is an autosomal recessive disorder of lysine and tryptophan metabolism due to a deficiency in glutaryl-CoA dehydrogenase activity. Recent reports sugge...
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Article
Cognitive and social profiles in two patients with cobalamin C disease
Cobalamin C (cblC) disease, an inborn error of vitamin B12 metabolism, results in neurometabolic, neurochemical and neuroanatomical changes. Little is known of the long-term effects of the disorder on cognition a...
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Article
Regulation of mitochondrial oxidative phosphorylation by second messenger-mediated signal transduction mechanisms
The mitochondrial oxidative phosphorylation system is responsible for providing the bulk of cellular ATP molecules. There is a growing body of information regarding the regulation of this process by a number o...
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Article
Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult
We present a patient with methylcrotonyl-CoA carboxylase (MCC) deficiency (McKusick 210200) who suffered from severe muscle pain and physical disability, and propose that this disorder be considered in the dif...
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Article
Body composition in young adults with inborn errors of protein metabolism—A pilot study
The natural history of inborn errors of protein metabolism and the long-term effects of prescribed semisynthetic therapeutic diets are largely unknown. We assessed body composition, measuring body-fat mass and...
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Article
The impact of galactosaemia on quality of life—A pilot study
Summary: Galactosaemia (galactose-1-phosphate uridyltransferase deficiency) is a pan-ethnic autosomal recessive disorder of galactose metabolism, with an estimated prevalence of 1 in 40–50 000. In this pilot stu...
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Article
Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases
Summary: We reviewed the medical records of all patients with confirmed mitochondrial diseases treated with any or all of thiamin, riboflavin, coenzyme Q, vitamin C (~10 mg/kg per day) an...
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Article
Pamidronate treatment improves bone mineral density in children with Menkes disease
Menkes disease is a severe multisystem disorder due to defective bioavailability and transport of copper at the cellular level. Deficient activity of lysyl oxidase, a copper-dependent enzyme, causes defective ...
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Article
3-Hydroxyglutarate excretion is increased in ketotic patients: Implications for glutaryl-CoA dehydrogenase deficiency testing
Three patients with ketosis had increased excretion of 3-hydroxyglutarate (21.8–37.9 μmol/mmol creatinine; controls 2.3 ± 1.6), an indicator of glutaryl-CoA dehydrogenase deficiency (GDHD), which normalized wh...
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Article
Splenectomy in two siblings with G-CSF-dependent glycogen storage disease type Ib
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Article
Perturbation of protein kinase C subtype activation in X-ALD fibroblasts: Possible involvement of protein kinase C in the pathogenesis of adrenoleukodystrophy
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Article
Succinic semialdehyde dehydrogenase deficiency in siblings: Clinical heterogeneity and response to early treatment
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Article
Variables influencing parental perception of inherited metabolic diseases before and after genetic counselling
The present study was undertaken to characterize the variables that influence parental perception of metabolic disorders and their genetic origin before and after genetic counselling, the effect of counselling...
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Article
Protein kinase C activity, phosphate uptake and endogenous substrate phosphorylation are altered in Zellweger syndrome
Protein kinase C (PKC) is a key enzyme in lipid-mediated signal transduction. Regulation of PKC activation is dependent upon the phospholipid constituents of cellular membranes. PKC is also activated by very l...
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Article
Inhibition of calcium-activated, phospholipid-dependent protein kinase (protein kinase C) activity in sphingolipidoses
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Article
Note on prime representations of convex polyhedral sets
Consider a convex polyhedral set represented by a system of linear inequalities. A prime representation of the polyhedron is one that contains no redundant constraints. We present a sharp upper bound on the di...
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Article
An unusual case of non-traumatic pneumococcal mediastinal abscess
A 16-month old baby developed severe respiratory failure because of acute laryngitis and required mechanical ventilation. Intubation was complicated by aspiration and development of chemical pneumonia. Followi...
