What Histological Features are Indicative of Protein Metabolism Disorders?
Histological examination can reveal several key features indicative of protein metabolism disorders:
Intracellular accumulations: Abnormal proteins or amino acids can accumulate within cells, forming inclusions or deposits. For instance, in Gaucher disease, glucocerebroside accumulates in macrophages, resulting in "Gaucher cells" with a characteristic crumpled tissue paper appearance. Cellular damage: Enzyme deficiencies can lead to cell death and tissue damage. In maple syrup urine disease (MSUD), the inability to break down branched-chain amino acids results in toxic levels that can damage neurons, observable as necrosis in brain tissue. Fibrosis: Chronic accumulation of abnormal proteins can trigger fibrotic responses, leading to excessive connective tissue formation. This is seen in amyloidosis, where amyloid deposits can cause organ dysfunction and fibrosis.
