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Inherited metabolic diseases

The inherited metabolic diseases (IMD) section publishes original research (clinical, biochemical, and genetic), well-phenotyped case series, clinical trial outcome reports, and comprehensive reviews of rare inherited disorders of metabolism.

Submissions that increase our understanding or make new observations regarding IMD are particularly welcome. Detailed natural history studies of well-phenotyped case series, and publication of consensus statements on investigation and management of IMD, including collaborations between centres, are encouraged.

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  1. Frequent feeds with carbohydrate-rich meals or continuous enteral feeding has been the therapy of choice in glycogen storage disease (Glycogenosis) type III. Recent guidelines on diagnosis and management recom...

    Authors: Sebene Mayorandan, Uta Meyer, Hans Hartmann and Anibh Martin Das

    Citation: Orphanet Journal of Rare Diseases 2014 9:196

    Content type: Research

    Published on:

  2. Cerebrotendinous xanthomatosis (CTX) OMIM#213700 is a rare autosomal-recessive lipid storage disease caused by mutations in the CYP27A1 gene; this gene codes for the mitochondrial enzyme sterol 27-hydroxylase, wh...

    Authors: Shuke Nie, Guiqin Chen, Xuebing Cao and Yunjian Zhang

    Citation: Orphanet Journal of Rare Diseases 2014 9:179

    Content type: Review

    Published on:

  3. Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stroke and small fiber neuropathy (SFN), caused by mutations of the alpha-galactosidase A (GLA) gene. We analyzed 15...

    Authors: Michael Schelleckes, Malte Lenders, Katrin Guske, Boris Schmitz, Christian Tanislav, Sonja Ständer, Dieter Metze, Istvan Katona, Joachim Weis, Stefan-Martin Brand, Thomas Duning and Eva Brand

    Citation: Orphanet Journal of Rare Diseases 2014 9:178

    Content type: Research

    Published on:

  4. Niemann-Pick disease type C (NP-C) is a rare autosomal recessive disorder of lysosomal cholesterol transport. The objective of this retrospective cohort study was to critically analyze the onset and time cours...

    Authors: Lucia Abela, Barbara Plecko, Antonella Palla, Patricie Burda, Jean-Marc Nuoffer, Diana Ballhausen and Marianne Rohrbach

    Citation: Orphanet Journal of Rare Diseases 2014 9:176

    Content type: Research

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  5. Signs and symptoms of the X-linked disorder, Fabry disease (FD), can occur early during childhood with heterogeneous clinical manifestations including potential cardiac and renal dysfunction. Several studies s...

    Authors: Raphael Schiffmann, Gregory M Pastores, Yeong-Hau H Lien, Victoria Castaneda, Peter Chang, Rick Martin and Anna Wijatyk

    Citation: Orphanet Journal of Rare Diseases 2014 9:169

    Content type: Research

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  6. Nephropathic cystinosis is an inherited autosomal recessive lysosomal storage disorder characterized by the pathological accumulation and crystallization of cystine inside different cell types. WBC cystine det...

    Authors: Mohamed A Elmonem, Samuel H Makar, Lambertus van den Heuvel, Hanan Abdelaziz, Safaa M Abdelrahman, Xavier Bossuyt, Mirian C Janssen, Elisabeth AM Cornelissen, Dirk J Lefeber, Leo AB Joosten, Marwa M Nabhan, Fanny O Arcolino, Fayza A Hassan, Héloïse P Gaide Chevronnay, Neveen A Soliman and Elena Levtchenko

    Citation: Orphanet Journal of Rare Diseases 2014 9:155

    Content type: Research

    Published on:

  7. The cblC defect is a rare inborn error of intracellular cobalamin metabolism. Biochemical hallmarks are elevated homocysteine and low methionine in plasma accompanied by methylmalonic aciduria. Due to the hete...

    Authors: Martina Huemer, Sabine Scholl-Bürgi, Karine Hadaya, Ilse Kern, Ronny Beer, Klaus Seppi, Brian Fowler, Matthias R Baumgartner and Daniela Karall

    Citation: Orphanet Journal of Rare Diseases 2014 9:161

    Content type: Research

    Published on:

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