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Pregled bibliografske jedinice broj: 1260832

Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

(European registry and network for Intoxication type Metabolic Diseases (E-IMD)) Molema, Femke; Gleich, Florian; Burgard, Peter; van der Ploeg, Ans T.; Summar, Marshall L.; Chapman, Kimberly A.; Lund, Allan M.; Rizopoulos, Dimitris; Kölker, Stefan; Williams, Monique et al.
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment // Molecular Genetics and Metabolism, 126 (2019), 4; 397-405 doi:10.1016/j.ymgme.2019.02.003 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1260832 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

Autori
Molema, Femke ; Gleich, Florian ; Burgard, Peter ; van der Ploeg, Ans T. ; Summar, Marshall L. ; Chapman, Kimberly A. ; Lund, Allan M. ; Rizopoulos, Dimitris ; Kölker, Stefan ; Williams, Monique ; Hörster, F. ; Jelsig, A.M. ; de Lonlay, P. ; Wijburg, F.A. ; Bosch, A. ; Freisinger, P. ; Posset, R. ; Augoustides-Savvopoulou, P. ; Avram, P. ; Deleanu, C. ; Baumgartner, M.R. ; Häberle, J. ; Blasco-Alonso, J. ; Burlina, A.B. ; Rubert, L. ; Cazorla, A. Garcia ; Saladelafont, E. Cortes I. ; Dionisi-Vici, C. ; Martinelli, D. ; Dobbelaere, D. ; Mention, K. ; Grünewald, S. ; Chakrapani, A. ; Hwu, Wuh-Liang ; Chien, Yin-Hsiu ; Lee, Ni-Chung ; Karall, D. ; Scholl-Bürgi, S. ; De Laet, C. ; Matsumoto, S. ; de Meirleir, L. ; Schiff, M. ; Peña-Quintana, L. ; Djordjevic, M. ; Sarajlija, A. ; Sykut-Cegielska, J. ; Wisniewska, A. ; Leao- Teles, E. ; Alves, S. ; Vara, R. ; Vives-Pinera, I. ; Gil-Ortega, D. ; Morris, A. ; Zeman, J. ; Honzik, T. ; Chabrol, B. ; Arnaudo, F. ; Cano, A. ; Thompson, N. ; Eyskens, F. ; Lindner, M. ; Lüsebrink, N. ; Jalan, A. ; Sokal, E. ; Legros, V. ; Nassogne, M.C. ; Barić, I.

Kolaboracija
European registry and network for Intoxication type Metabolic Diseases (E-IMD)

Izvornik
Molecular Genetics and Metabolism (1096-7192) 126 (2019), 4; 397-405

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Body height ; Branched-chain amino acids ; Dietary and supplemental treatment ; L-arginine ; Organic acidurias ; Urea cycle disorders

Sažetak
Background and aim: Patients with methylmalonic acidemia (MMA) and propionic acidemia (PA) and urea cycle disorders (UCD), treated with a protein restricted diet, are prone to growth failure. To obtain optimal growth and thereby efficacious protein incorporation, a diet containing the essential and functional amino acids for growth is necessary. Optimal growth will result in improved protein tolerance and possibly a decrease in the number of decompensations. It thus needs to be determined if amino acid deficiencies are associated with the growth retardation in these patient groups. We studied the correlations between plasma L-arginine levels, plasma branched chain amino acids (BCAA: L-isoleucine, L-leucine and L-valine) levels (amino acids known to influence growth), and height in MMA/PA and UCD patients. Methods: We analyzed data from longitudinal visits made in stable metabolic periods by patients registered at the European Registry and Network for Intoxication Type Metabolic Diseases (E-IMD, Chafea no. 2010 12 01). Results: In total, 263 MMA/PA and 311 UCD patients were included, all aged below 18 years of age. In patients with MMA and PA, height z-score was positively associated with patients' natural- protein-to-energy prescription ratio and their plasma L-valine and L-arginine levels, while negatively associated with the amount of synthetic protein prescription and their age at visit. In all UCDs combined, height z-score was positively associated with the natural-protein-to-energy prescription ratio. In those with carbamylphosphate synthetase 1 deficiency (CPS1- D), those with male ornithine transcarbamylase deficiency (OTC-D), and those in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome subgroup, height z-score was positively associated with patients' plasma L- leucine levels. In those with argininosuccinate synthetase deficiency (ASS-D) and argininosuccinate lyase deficiency (ASL-D), height was positively associated with patients' plasma L- valine levels. Conclusion: Plasma L-arginine and L-valine levels in MMA/PA patients and plasma L-leucine and L- valine levels in UCD patients, as well as the protein-to-energy prescription ratio in both groups were positively associated with height. Optimization of these plasma amino acid levels is essential to support normal growth and increase protein tolerance in these disorders. Consequently this could improve the protein-to-energy intake ratio.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Ivo Barić (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

(European registry and network for Intoxication type Metabolic Diseases (E-IMD)) Molema, Femke; Gleich, Florian; Burgard, Peter; van der Ploeg, Ans T.; Summar, Marshall L.; Chapman, Kimberly A.; Lund, Allan M.; Rizopoulos, Dimitris; Kölker, Stefan; Williams, Monique et al.
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment // Molecular Genetics and Metabolism, 126 (2019), 4; 397-405 doi:10.1016/j.ymgme.2019.02.003 (međunarodna recenzija, članak, znanstveni)
(European registry and network for Intoxication type Metabolic Diseases (E-IMD)) (European registry and network for Intoxication type Metabolic Diseases (E-IMD)) Molema, F., Gleich, F., Burgard, P., van der Ploeg, A., Summar, M., Chapman, K., Lund, A., Rizopoulos, D., Kölker, S. & Williams, M. (2019) Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. Molecular Genetics and Metabolism, 126 (4), 397-405 doi:10.1016/j.ymgme.2019.02.003.
@article{article, author = {Molema, Femke and Gleich, Florian and Burgard, Peter and van der Ploeg, Ans T. and Summar, Marshall L. and Chapman, Kimberly A. and Lund, Allan M. and Rizopoulos, Dimitris and K\"{o}lker, Stefan and Williams, Monique and H\"{o}rster, F. and Jelsig, A.M. and de Lonlay, P. and Wijburg, F.A. and Bosch, A. and Freisinger, P. and Posset, R. and Augoustides-Savvopoulou, P. and Avram, P. and Deleanu, C. and Baumgartner, M.R. and H\"{a}berle, J. and Blasco-Alonso, J. and Burlina, A.B. and Rubert, L. and Cazorla, A. Garcia and Saladelafont, E. Cortes I. and Dionisi-Vici, C. and Martinelli, D. and Dobbelaere, D. and Mention, K. and Gr\"{u}newald, S. and Chakrapani, A. and Hwu, Wuh-Liang and Chien, Yin-Hsiu and Lee, Ni-Chung and Karall, D. and Scholl-B\"{u}rgi, S. and De Laet, C. and Matsumoto, S. and de Meirleir, L. and Schiff, M. and Pe\~{n}a-Quintana, L. and Djordjevic, M. and Sarajlija, A. and Sykut-Cegielska, J. and Wisniewska, A. and Leao- Teles, E. and Alves, S. and Vara, R. and Vives-Pinera, I. and Gil-Ortega, D. and Morris, A. and Zeman, J. and Honzik, T. and Chabrol, B. and Arnaudo, F. and Cano, A. and Thompson, N. and Eyskens, F. and Lindner, M. and L\"{u}sebrink, N. and Jalan, A. and Sokal, E. and Legros, V. and Nassogne, M.C. and Bari\'{c}, I.}, year = {2019}, pages = {397-405}, DOI = {10.1016/j.ymgme.2019.02.003}, keywords = {Body height, Branched-chain amino acids, Dietary and supplemental treatment, L-arginine, Organic acidurias, Urea cycle disorders}, journal = {Molecular Genetics and Metabolism}, doi = {10.1016/j.ymgme.2019.02.003}, volume = {126}, number = {4}, issn = {1096-7192}, title = {Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment}, keyword = {Body height, Branched-chain amino acids, Dietary and supplemental treatment, L-arginine, Organic acidurias, Urea cycle disorders} }
@article{article, author = {Molema, Femke and Gleich, Florian and Burgard, Peter and van der Ploeg, Ans T. and Summar, Marshall L. and Chapman, Kimberly A. and Lund, Allan M. and Rizopoulos, Dimitris and K\"{o}lker, Stefan and Williams, Monique and H\"{o}rster, F. and Jelsig, A.M. and de Lonlay, P. and Wijburg, F.A. and Bosch, A. and Freisinger, P. and Posset, R. and Augoustides-Savvopoulou, P. and Avram, P. and Deleanu, C. and Baumgartner, M.R. and H\"{a}berle, J. and Blasco-Alonso, J. and Burlina, A.B. and Rubert, L. and Cazorla, A. Garcia and Saladelafont, E. Cortes I. and Dionisi-Vici, C. and Martinelli, D. and Dobbelaere, D. and Mention, K. and Gr\"{u}newald, S. and Chakrapani, A. and Hwu, Wuh-Liang and Chien, Yin-Hsiu and Lee, Ni-Chung and Karall, D. and Scholl-B\"{u}rgi, S. and De Laet, C. and Matsumoto, S. and de Meirleir, L. and Schiff, M. and Pe\~{n}a-Quintana, L. and Djordjevic, M. and Sarajlija, A. and Sykut-Cegielska, J. and Wisniewska, A. and Leao- Teles, E. and Alves, S. and Vara, R. and Vives-Pinera, I. and Gil-Ortega, D. and Morris, A. and Zeman, J. and Honzik, T. and Chabrol, B. and Arnaudo, F. and Cano, A. and Thompson, N. and Eyskens, F. and Lindner, M. and L\"{u}sebrink, N. and Jalan, A. and Sokal, E. and Legros, V. and Nassogne, M.C. and Bari\'{c}, I.}, year = {2019}, pages = {397-405}, DOI = {10.1016/j.ymgme.2019.02.003}, keywords = {Body height, Branched-chain amino acids, Dietary and supplemental treatment, L-arginine, Organic acidurias, Urea cycle disorders}, journal = {Molecular Genetics and Metabolism}, doi = {10.1016/j.ymgme.2019.02.003}, volume = {126}, number = {4}, issn = {1096-7192}, title = {Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment}, keyword = {Body height, Branched-chain amino acids, Dietary and supplemental treatment, L-arginine, Organic acidurias, Urea cycle disorders} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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