Jump to ContentJump to Main Navigation
Show Summary Details

Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

12 Issues per year


IMPACT FACTOR 2015: 0.912

SCImago Journal Rank (SJR) 2015: 0.493
Source Normalized Impact per Paper (SNIP) 2015: 0.600
Impact per Publication (IPP) 2015: 0.955

Online
ISSN
2191-0251
See all formats and pricing
Just Accepted

Issues

Nutritional and metabolic findings in patients with Prader-Willi syndrome diagnosed in early infancy

YanYan Ma
  • Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
/ TongFei Wu
  • Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
/ YuPeng Liu
  • Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
/ Qiao Wang
  • Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
/ JinQing Song
  • Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
/ Fang Song
  • Department of Medical Genetics, Capital Institute of Pediatrics, Beijing 100020, China
/ YanLing Yang
  • Corresponding author
  • Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
  • Email:
Published Online: 2012-10-02 | DOI: https://doi.org/10.1515/jpem-2012-0167

Abstract

Objective: Early treatment (growth hormone and nutritional support) improves development in infants with Prader-Willi syndrome. This study aimed to evaluate the nutritional and metabolic condition of nine patients who were diagnosed and treated in early infancy.

Methods: Nine patients were hospitalized at the age of \xe2\u20ac\xa810 days to 11 months because of severe feeding difficulties, failure to thrive, or developmental delay. The diagnosis of Prader-Willi syndrome was confirmed by fluorescence in situ hybridization or other molecular genetic techniques. Nutritional and metabolic investigations including urinary organic acid analysis, blood amino acid, and acylcarnitine profiles were performed.

Results: The diagnosis was made at the mean age of 6.3 months. A deletion of the paternal gene in the 15q11-13 region was detected in all patients. Eight patients had ketosis, seven had malnutrition, five had hyperammonemia, three had liver dysfunction, three had low blood cholesterol level, and two had hypoglycemia. All patients had reduction of serum multiple amino acids and free carnitine. Significant arginine deficiency was found in all patients. Six patients had mildly elevated blood long-chain and very long-chain acylcarnitine. After supplementation with l-arginine, medium-chain fatty acids, l-carnitine, and vitamins, all patients responded with improvement of motor development and nutritional conditions. Four patients were almost caught up on physical and psychomotor development.

Conclusions: Patients with Prader-Willi syndrome are in bad metabolic condition in the early period. Early diagnosis and individual nutritional interventions may improve the nutritional and developmental progress and decrease death rate in infancy.

Keywords: feeding difficulties; FISH; Prader-Willi syndrome

About the article

Corresponding author: Prof. Yang Yanling, Department of Pediatrics, Peking University First Hospital, Beijing 100034, China, Phone: +86-10-83573003, Fax: +86-10-66134261


Received: 2012-05-22

Accepted: 2012-08-24

Published Online: 2012-10-02

Published in Print: 2012-12-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2012-0167. Export Citation

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Hongbo Yang, Mengqi Zhang, Hongmei Song, Huijuan Zhu, and Hui Pan
Congenital Anomalies, 2015, Volume 55, Number 4, Page 173
[2]
Rena A. Harrington, David A. Weinstein, and Jennifer L. Miller
American Journal of Medical Genetics Part A, 2014, Volume 164, Number 5, Page 1127

Comments (0)

Please log in or register to comment.
Log in