Rare Inborn Errors of Metabolism in Children in Latvia
Zita Krumina
Broschiertes Buch

Rare Inborn Errors of Metabolism in Children in Latvia

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Inborn errors of metabolism (IEM) comprise a large class of genetic diseases involving disorders of metabolism. In most of the disorders, problems arise due to accumulation of substances which are toxic and it can cause acute or chronic intoxication, hypoglycaemia, or other metabolic disturbances. Clinical presentation in most cases are unspecific and in the neonatal period or during infancy could be misdiagnosed as manifestation of sepsis, birth trauma, encephalitis, sudden death syndrome or other disease. IEM individually are rare but collectively are common, and numbers of them are rising a...