Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation.

Abstract

UNLABELLED:

Patients with glycogen storage disease type 1b (GSD1b) not only show hepatomegaly, hypoglycaemia and lactic acidosis, but also neutropenia and neutrophil dysfunction. Here, we report improvement of neutropenia and neutrophil function in a 22-year-old male GSD1b patient who had undergone living-related partial liver transplantation (LT) at 18 years of age. After LT, the patient's infectious episodes decreased, gastrointestinal symptoms ameliorated, neutrophil counts increased, and neutrophil function tests normalised.

CONCLUSION:

Although it is not known whether this improvement was causally related to liver transplantation, this may be the first recorded case of restoration of neutrophil dysfunction in a glycogen storage disease type 1b patient.

• Authors: Masanori Adachi, Masato Shinkai, Youkatsu Ohhama, Katsuhiko Tachibana, Tadatoshi Kuratsuji, Hiroh Saji, Etsuko Maruya
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 163 Issue 4-5 Pg. 202-6 (Apr 2004) ISSN: 0340-6199 [Print] Germany
• PMID: 14872340 (Publication Type: Case Reports, Journal Article)

Chemical References

• Antiporters
• Monosaccharide Transport Proteins
• SLC37A4 protein, human
• glucose 6-phosphate(transporter)
• Phosphotransferases

Topics

• Adult
• Antiporters
• Base Sequence
• Female
• Glycogen Storage Disease Type I (blood, genetics, pathology)
• Humans
• Leukocyte Count
• Liver Transplantation
• Male
• Monosaccharide Transport Proteins
• Mutation
• Neutrophils (physiology)
• Pedigree
• Phosphotransferases (genetics)