The Center for Diagnostic and Advanced Metabolic Studies of Cantabria, is specialized in the detection of inherited metabolic diseases, also called Inborn Errors of Metabolism IEM , a large group of Rare Genetic disorders that affect at biochemical or cellular level of the organism, with serious consequences for the person who suffers. City :. Follow us on. Event organised.

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Enfermedades congénitas del metabolismo en el periodo neonatal (I). Generalidades

Propionic acidemia AP is an organic acidemia AO with clinical presentation of neonatal onset or late. Caused by deficiency of the enzyme propionil-CoA carboxilasa that causes accumulation of propionic acid and metabolites related to propionyl-CoA in tissues. Hyperglycinemia is characteristic, but hyperlysinemia may occur. This work describes a clinical case of AP of neonatal onset with fatal outcome and striking alteration of amino acids. Clinical case.


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Skip to search form Skip to main content You are currently offline. Some features of the site may not work correctly. Title: Inborn errors of metabolism during the neonatal period I. General aspects Inborn errors of metabolism are rare at the individual level, but are common at the collective level, due to the great number of entities described in recent years. The first signs are often detected during the neonatal period.

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