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Characteristic growth pattern in male X‐linked phosphorylase‐b kinase deficiency (GSD IX)
Author(s) -
Schippers H. M.,
Smit G. P. A.,
Rake J. P.,
Visser G.
Publication year - 2003
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1024071328772
Subject(s) - growth retardation , glycogen storage disease , growth spurt , medicine , pediatrics , endocrinology , disease , biology , pregnancy , genetics
Summary: 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 ingeneral 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.