HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Complex glycerol kinase deficiency leads to psychomotor and body-growth failure.

Abstract
Complex glycerol kinase deficiency usually presents with Duchenne muscular dystrophy, glycerol kinase deficiency and adrenal hypoplasia congenital. We describe a follow-up patient with complex glycerol kinase deficiency who had appropriate intrauterine development, but who at 1 month of age manifested severe growth delay and psychomotor retardation. Targeted therapy did not bring about the regression of symptoms: both bodyweight and height were below the 3rd centile until 8 years of age, and his Griffith's Mental Development scale score was 71 at age 5 years.
AuthorsM Zaffanello, G Zamboni, P Tonin, G P Solero, L Tatò
JournalJournal of paediatrics and child health (J Paediatr Child Health) Vol. 40 Issue 4 Pg. 237-40 (Apr 2004) ISSN: 1034-4810 [Print] Australia
PMID15009558 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Glycerol Kinase
Topics
  • Biopsy
  • Child
  • Child, Preschool
  • Fetal Diseases (metabolism)
  • Glycerol Kinase (deficiency, genetics)
  • Growth Disorders (metabolism)
  • Humans
  • Male
  • Muscle, Skeletal (pathology)
  • Muscular Dystrophy, Duchenne (pathology)
  • Psychomotor Disorders (genetics, metabolism)
  • Surveys and Questionnaires

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: