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Inborn error of metabolism and liver storage diseases (except hemochromatosis) Volume 26, issue 9, Novembre 2019

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Authors
1 Hôpital Bretonneau, service de médecine interne, Centre de Référence Maladies Héréditaires de l’Ouest, 2 boulevard Tonnellé, 37044 Tours cedex 9
2 CHU Toulouse, Hôpital des enfants, Pôle enfants, service d’hépatologie, Centre de Référence Maladies Héréditaires du Métabolisme Sud-Ouest, 330 avenue de Grande Bretagne, TSA 70034, 31059 Toulouse cedex 9
* Correspondance

Inborn errors of metabolism (IEM) that cause overload are individually rare, but collectively numerous. Most of them are diagnosed in children although more and more adults are diagnosed with attenuated forms of IEM. Such forms may expose patients to the same complications as pediatric diseases. Diagnostic yield of IEM has improved over time, due to significant progress in metabolic and genetic investigations, and due to the implantation of rare disease centers dedicated to IEM. Beyond diagnosis, these centers organize the follow up of affected patients as well as the « children – adults » transition of care. Some IEMs are treatable (Wilson disease, Glycogen storage disease, Gaucher disease, manganese overload, fructose intolerance, CESD, citrullinemia, hypobetalipoproteinemia...) but carry a high risk for long term complications that can be prevented by early diagnosis and treatment. Some others (Niemann Pick disease, CDG syndromes, neutral lipid storage disease...) have no specific therapy so far. The objectives of this review are 1) to expose recent knowledge about « old diseases » which every doctor has heard of but has never seen, and also some knowledge about some recently described diseases ; 2) give some clues in order to suspect an IEM in case of unexplained NAFLD.

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