Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX).
Growth retardation is one of the clinical characteristics of glycogen storage disease (GSD) type IX. Initial growth retardation has been described in a few case reports, followed by a complete catch-up in growth. This study aimed to determine the growth pattern of patients with GSD IX. Growth charts of 51 male Dutch patients with GSD IX (age 0-33 years, median follow-up time 8.3 years (range 0-30.5 years)) were studied retrospectively and compared with Dutch standard growth charts. Patients had a normal height at birth, significant growth retardation between the ages of 2 and 10 years (mean z-score -1.96), delayed growth spurt in puberty and catch-up towards quite normal final height (mean z-score -0.55). We conclude that GSD IX patients have a specific growth pattern characterized by initial growth retardation, a late growth spurt and complete catch-up in final height. Intervention for growth retardation is therefore in general not warranted. It is speculated that mild hypoglycaemia related to the disorder may cause endocrine changes. Because the glucose need per kg bodyweight decreases with age, the enzyme defect becomes less important with ageing and the effect on growth diminishes.
Schippers
H M
HM
Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands. h.m.schippers@neuro.azu.nl
Smit
G P A
GP
Rake
J P
JP
Visser
G
G
D000293:Adolescent; D000328:Adult; D000375:Aging / Q000502:physiology; D001827:Body Height / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005500:Follow-Up Studies; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D010764:Phosphorylase Kinase / Q000172:deficiency* / Q000235:genetics*; D012189:Retrospective Studies
D010764:Phosphorylase Kinase