13 Result(s)
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Chapter
Biotin-Responsive Disorders
Two inherited defects affecting the coenzyme function of biotin are known: holocarboxylase synthetase (HCS) deficiency and biotinidase deficiency. Both lead to deficiency of all biotin-dependent carboxylases, ...
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Chapter
Disorders of Cobalamin Metabolism
Vitamin B12 (Cbl) is needed for just two metabolic reactions in man, the methylation of homocysteine to methionine (cofactor methyl-Cbl) and the conversion of methylmalonyl-CoA to succinyl-CoA (cofactor adenosyl-...
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Chapter
Disorders of Ornithine and Proline Metabolism
Hyperornithinaemia due to ornithine aminotransferase (OAT) deficiency results from loss of function mutations in OAT and causes gyrate atrophy of the choroid and retina (GA), a progressive retinal degeneration. T...
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Chapter
Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
Introduction: Progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders, organic acidurias or maple syrup urine disease is resulting...
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Chapter
Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
Introduction: This study is part of the “European network and registry for intoxication type metabolic diseases” (E-IMD) project. Intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle...
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Chapter
Biotin-responsive Disorders
Two inherited defects affecting the coenzyme function of biotin are known: holocarboxylase synthetase (HCS) deficiency and biotinidase deficiency. Both lead to deficiency of all biotin-dependent carboxylases, ...
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Chapter
Disorders of Ornithine and Proline Metabolism
Hyperornithinaemia due to ornithine aminotransferase (OAT) deficiency results in gyrate atrophy of the choroid and retina (GA) and leads to progressive visual loss. Treatment includes an arginine-restricted di...
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Chapter
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium
Background: Patients with organic acidurias (OAD) and urea cycle disorders (UCD) are at increased risk of disability, impaired quality of life and reduced life expectancy. Clinical care in any one ...
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Chapter
Vitamin B12 Disorders
Vitamin B12 (Cbl) is needed for just two metabolic reactions in man, the methylation of homocysteine to methionine (cofactor methyl-Cbl) and the conversion of methylmalonyl-CoA to succinyl-CoA (cofactor adenosyl-...
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Chapter
Biotin-responsive Disorders
Two inherited defects affecting the coenzyme function of biotin are known: holocarboxylase synthetase (HCS) deficiency and biotinidase deficiency. Both lead to deficiency of all biotin-dependent carboxylases, i.e...
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Chapter
Disorders of Ornithine Metabolism
Hyperornithinaemia due to ornithine aminotransferase (OAT) deficiency results in gyrate atrophy of the choroid and retina (GA). Although the progression of the retinal degeneration is highly variab...
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Chapter
Biotin-Responsive Disorders
Two inherited defects in biotin metabolism are known: holocarboxylase synthetase (HCS) deficiency and biotinidase deficiency. Both lead to deficiency of all biotindependent carboxylases, i.e. to multiple carboxyl...
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Chapter
Disorders of Ornithine Metabolism
Hyperornithinemia due to ornithine aminotransferase (OAT) deficiency is associated with gyrate atrophy of the choroid and retina. Patients usually become virtually blind by age 55. Treatment...
