Objectives: There are numerous laboratory investigations available for
the assessment of an infant with suspected metabolic bone disease (MB
D); thus, comprehensive laboratory investigations on every aspect of M
BD would impose unnecessary stress to the infant and the costs involve
d would be prohibitive. An overview of the assessment of an infant wit
h suspected MBD, in particular, nutrition-related bone disease, is pre
sented. Our objectives include an understanding of: 1. the importance
of appropriate information from history and physical examination to gu
ide the laboratory investigations; 2. relevance and limitations of spe
cific laboratory investigations: a. radiologic studies include diagnos
tic radiographs and quantitative bone mass determination by dual energ
y x-ray absorptiometry, b. biochemical measurements to determine miner
al homeostasis and bone turnover, c. vitamin (vitamin D metabolites) a
nd hormonal (parathyroid hormone and calcitonin) measurements; with re
spect to diagnosis and monitoring of the natural progress or response
to therapy. Conclusion: Relevant information from clinical history and
physical examination, and an understanding of the role and limitation
s of various laboratory investigations, would allow the optimal utiliz
ation of laboratory tests in the assessment of an infant with MBD.