Inborn Metabolic Diseases
Diagnosis and Treatment
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%P
10 Result(s)
within
Matthias R Baumgartner
Endocrinology
Human Genetics
Pediatrics
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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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Book
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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...
-
Book
-
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, ...
-
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...
-
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...
-
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...
-
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...
-
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...
