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Creatine is a nitrogen containing compound that serves as an energy shuttle between the mitochondrial sites of ATP production and the cytosol where ATP is utilized. There are two known disorders of creatine synthesis (both transmitted as autosomal recessive traits: arginine: glycine amidinotransferase (AGAT) deficiency; OMIM 602360; and guanidinoacetate(More)
Piezo1 ion channels are mediators of mechanotransduction in several cell types including the vascular endothelium, renal tubular cells and erythrocytes. Gain-of-function mutations in PIEZO1 cause an autosomal dominant haemolytic anaemia in humans called dehydrated hereditary stomatocytosis. However, the phenotypic consequence of PIEZO1 loss of function in(More)
BACKGROUND Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlation has been lacking. METHODS We performed a retrospective study of clinical, biochemical and molecular(More)
BACKGROUND Phenylketonuria is an inherited disease caused by impaired activity of phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine, leading to accumulation of phenylalanine and subsequent neurocognitive dysfunction. Phenylalanine ammonia lyase is a prokaryotic enzyme that converts phenylalanine to ammonia and trans-cinnamic(More)
Mutations in the insulin receptor gene cause the inherited insulin resistant syndromes Leprechaunism and Rabson-Mendenhall syndrome. These recessive conditions are characterized by intrauterine and post-natal growth restrictions, dysmorphic features, altered glucose homeostasis, and early demise. The insulin receptor gene (INSR) maps to the short arm of(More)
PURPOSE The aim of this study was to examine predictors of ammonia exposure and hyperammonemic crises in patients with urea cycle disorders. METHODS The relationships between fasting ammonia, daily ammonia exposure, and hyperammonemic crises were analyzed in >100 patients with urea cycle disorders. RESULTS Fasting ammonia correlated strongly with daily(More)
Mitochondrial disorders cause a wide spectrum of diseases in children. Their presentation is nonspecific with encephalomyopathy, failure to thrive, seizures, ophthalmoplegia, and sensorineural hearing loss. These disorders are progressive and are aggravated by fever and infections. They can be caused by mutations in nDNA or mtDNA. Diagnosis requires a(More)
OBJECTIVES The objectives of this study were to assess the reactions of adult patients and parents of children with metabolic conditions to receipt of an "information prescription" (IP) to visit Genetics Home Reference (GHR), a National Institutes of Health/National Library of Medicine online resource, and evaluate the perceived utility of information found(More)
BACKGROUND Little prospectively collected data are available comparing the dietary intake of urea cycle disorder (UCD) patients to UCD treatment guidelines or to healthy individuals. OBJECTIVE To examine the protein and calorie intakes of UCD subjects who participated in clinical trials of glycerol phenylbutyrate (GPB) and compare these data to published(More)
BACKGROUND Canavan disease is a devastating autosomal recessive leukodystrophy leading to spongiform degeneration of the white matter. There is no cure or treatment for Canavan disease, and disease progression is poorly understood. RESULTS We report a new presentation of a patient found to have Canavan disease; brain magnetic resonance imaging (MRI)(More)