Bone metabolism in galactosemia.

Area of Science:

• Pediatric Endocrinology
• Metabolic Disorders
• Bone Biology

Background:

• Classical galactosemia is an inherited metabolic disorder requiring lifelong galactose restriction.
• Despite dietary management, decreased bone mineral density (BMD) is a common long-term complication.
• The causes of reduced BMD in galactosemia are unclear, potentially involving dietary factors or intrinsic mechanisms.

Purpose of the Study:

• To investigate bone metabolism in children with classical galactosemia on a galactose-restricted diet.
• To identify potential factors contributing to decreased BMD in this patient population.

Main Methods:

• Studied 40 children (aged 3-17) with classical galactosemia on dietary treatment.
• Assessed anthropometric measurements (weight, height Z scores).
• Measured bone mineral density (BMD) using Dual energy X-ray Absorptiometry (DXA) and analyzed serum markers of bone metabolism and growth factors.

Main Results:

• Children with galactosemia exhibited significantly decreased weight and height Z scores.
• Mean areal and volumetric BMD Z scores were significantly lower in the femoral neck.
• Serum levels of Insulin-like Growth Factor 1 (IGF-1), bone formation marker carboxylated osteocalcin (cOC), and bone resorption markers (NTX, CTX) were significantly reduced.

Conclusions:

• Children with classical galactosemia on dietary treatment have impaired bone metabolism.
• Reduced levels of IGF-1, cOC, NTX, and CTX suggest a generalized decrease in bone turnover.
• Further research is needed to elucidate the intrinsic factors affecting bone health in galactosemia.