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Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance

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JIMD Reports - Case and Research Reports, 2011/1

Part of the book series: JIMD Reports ((JIMD,volume 1))

Abstract

Background: Lysinuric protein intolerance (LPI) is an autosomal recessive cationic amino acid transport defect characterized by episodes of postprandial hyperammonemias and spontaneous protein aversion. Subnormal growth is common in spite of appropriate nutritional therapy. Growth hormone (GH) therapy promotes appetite, protein synthesis and accretion, but its possible growth-promoting effects and safety in patients with LPI are poorly known.

Methods: Four LPI children aged 7–16 years were treated with GH for a period of 3–4.5 years. Dietary intakes and plasma amino acid levels were analyzed frequently in addition to routine monitoring of GH therapy.

Results: Insulin-like growth factor-1 concentration was low and bone age was delayed in all LPI patients, but GH provocative test was pathological in only one of the patients. During the 3–4.5 years of GH therapy (dose 0.035–0.050 mg/kg/day), bone age did not catch up but height standard deviation score (SDS) improved by 0.7–1.8 SDS. There were no episodes of hyperammonemias.

Conclusions: Our data support safety and growth-promoting potential of long-term GH therapy in patients with LPI.

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Abbreviations

GH:

Growth hormone

IGF-1:

Insulin-like growth factor-1

LPI:

Lysinuric protein intolerance

SLC7A7:

Solute carrier family 7, member 7

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Acknowledgments

This study was supported by the European Genomics Initiative on Disorders of Plasma Membrane Amino Acid Transporters (EUGINDAT), the Finnish Cultural Foundation, and the Novo Nordisk Foundation.

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Authors and Affiliations

  1. Department of Pediatrics, University of Turku, Kiinamyllynkatu 4-8, Turku, Finland

    Harri Niinikoski, Laura Tanner, Olli Simell & Kirsti Näntö-Salonen

  2. Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland

    Risto Lapatto

  3. Department of Pediatrics, University of Oulu, Oulu, Finland

    Matti Nuutinen

Authors
  1. Harri Niinikoski
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  2. Risto Lapatto
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  3. Matti Nuutinen
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  4. Laura Tanner
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  5. Olli Simell
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  6. Kirsti Näntö-Salonen
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Corresponding author

Correspondence to Harri Niinikoski .

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    Take Home Message

    Take Home Message

    Poor growth in children with lysinuric protein intolerance can be improved by growth hormone.

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    © 2011 SSIEM and Springer-Verlag Berlin Heidelberg

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    Niinikoski, H., Lapatto, R., Nuutinen, M., Tanner, L., Simell, O., Näntö-Salonen, K. (2011). Growth Hormone Therapy Is Safe and Effective in Patients with Lysinuric Protein Intolerance. In: JIMD Reports - Case and Research Reports, 2011/1. JIMD Reports, vol 1. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_15

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    • DOI: https://doi.org/10.1007/8904_2011_15

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    • Publisher Name: Springer, Berlin, Heidelberg

    • Print ISBN: 978-3-642-17707-1

    • Online ISBN: 978-3-642-17708-8

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