Complex glycerol kinase deficiency leads to psychomotor and body-growth failure.
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.
Zaffanello
M
M
Regional Centre of Neonatal Screening, Department of Paediatrics, University of Verona, Verona, Italy. marco.zaffanello@univr.it
Zamboni
G
G
Tonin
P
P
Solero
G P
GP
Tatò
L
L
D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D005315:Fetal Diseases / Q000378:metabolism; D005991:Glycerol Kinase / Q000172:deficiency* / Q000235:genetics; D006130:Growth Disorders / Q000378:metabolism*; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020388:Muscular Dystrophy, Duchenne / Q000473:pathology; D011596:Psychomotor Disorders / Q000235:genetics / Q000378:metabolism*; D011795:Surveys and Questionnaires
D005991:Glycerol Kinase