Disorders in the metabolism of trace elements and metals

Disorders in the Metabolism of Trace Elements and Metals

Overview:
Disorders of trace element and metal metabolism occur when the body absorbs, transports, stores, or excretes essential or toxic metals abnormally. Genetic defects, nutritional deficiencies, excessive exposure, or impaired organ function can lead to accumulation or deficiency and affect multiple systems.

Common conditions covered:

• Copper metabolism: Wilson disease, Menkes disease
• Iron metabolism: Hereditary hemochromatosis and iron deficiency disorders
• Zinc metabolism: Zinc deficiency and acrodermatitis enteropathica
• Manganese metabolism: Disorders associated with manganese accumulation or deficiency
• Selenium metabolism: Selenium deficiency and excess
• Chromium metabolism: Chromium deficiency or toxicity
• Cobalt metabolism: Cobalt-related metabolic abnormalities
• Heavy-metal disorders: Lead, mercury, arsenic, and other metal toxicity

Clinical Features:
Symptoms vary depending on the affected element and may include growth abnormalities, anemia, neurological problems, liver dysfunction, bone abnormalities, developmental delay, fatigue, and metabolic disturbances.

Genetic Testing / Gene Panel:
A trace element and metal metabolism gene panel can identify pathogenic variants associated with inherited disorders of metal transport, absorption, storage, utilization, and excretion. Testing may help establish a molecular diagnosis, guide clinical management, and support family counseling.

Sample: Blood/EDTA or other specimen depending on the laboratory protocol
Method: Next-Generation Sequencing (NGS) with variant analysis
Report: Detected pathogenic/likely pathogenic variants and relevant genetic findings