Deoksüriboosi

Deoksüriboosi is a Turkish term used to describe disorders involving deoxyribose metabolism. Deoxyribose is the sugar component of DNA, produced during nucleotide turnover and balanced by cellular metabolism. In Turkish medical literature the term may refer to rare metabolic disturbances in which deoxyribose or related pentose sugars accumulate or are improperly utilized in body fluids such as urine or blood.

Etiology and pathophysiology: The exact mechanisms are not well defined in mainstream English-language sources due to the rarity of these conditions. In general, deoksüriboosi may reflect defects in enzymes that process deoxyribose or its precursors, or broader disruptions in nucleotide and pentose sugar metabolism, including the pentose phosphate pathway. Because of limited data, definitions and diagnostic criteria may vary across sources.

Clinical presentation and diagnosis: Reported clinical features are nonspecific and depend on the underlying disorder. Diagnostic workup may include metabolic screening and targeted assays to detect deoxyribose in urine or plasma, often using mass spectrometry or specialized enzymatic tests. Confirmation relies on demonstrating abnormal deoxyribose metabolism in a metabolic laboratory.

Management and prognosis: No widely accepted targeted therapy exists specifically for deoksüriboosi. Management generally focuses on addressing the underlying metabolic abnormality, providing supportive care, and monitoring sugar metabolites. Prognosis is variable and linked to the associated conditions and their severity.

See also: Deoxyribose; Nucleotide metabolism; Pentose phosphate pathway.