Inborn Metabolic Diseases
Diagnosis and Treatment
Chapter
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, ...
Book
Chapter
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-...
Chapter
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...
Article
To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects...
Article
To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts.
Article
Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly.
Article
5,10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the NADPH-dependent reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate using FAD as the cofactor. Severe MTHFR deficiency is the ...
Chapter
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...
Chapter
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...
Article
Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.
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Article
To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation.
Article
Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk for acute and chronic metabolic decompensation resulting in impairments of the central nervous system and oth...
Book
Chapter
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, ...
Article
Chapter
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...
Article
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (<200 reported cases). This retrospective study evaluates clinic...
Article
Traditional approaches for nighttime glycemic control in glycogen storage disease type I (GSDI) include continuous tube feeding, or ingestion of uncooked corn starch (CS) at bedtime. A modified corn starch (MC...