Table 4.

Biochemical Findings in Schmid Metaphyseal Chondrodysplasia Compared with Vitamin D-Deficient Rickets and Metabolic Bone Diseases

DisorderSerum CalciumSerum PhosphateSerum PTHSerum 25-OH
Cholecalciferol		Serum 1,25(OH)2
Cholecalciferol
SMCD NormalNormalNormalNormalNormal
Vitamin D-deficient rickets ↓↓Normal or ↑↓Normal or ↑
Hypophosphatemic rickets Normal↓ 1Normal or ↑NormalNormal or ↓
Vitamin D-dependent rickets 2 Normal or ↓↓Normal or ↑Normal↓

SMCD = Schmid metaphyseal chondrodysplasia; PTH = parathyroid stimulating hormone

1.

Urinary phosphates may be increased.

2.

Caused by deficient 25-OHD-1-α-hydroxylase activity

From: Schmid Metaphyseal Chondrodysplasia

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