Metabolic Compulsion: The Genetic Tragedy of Involuntary Self-Mutilation

Enzymes, Uric Acid, and the Devastating Biochemical Glitch in Pediatric Neurology

von Eric J. Hitt

140 Seiten, Taschenbuch, ab 1 Jahre

Kurzbeschreibung des Verlags

It is one of the most horrifying and heartbreaking conditions in modern genetics. Lesch-Nyhan Syndrome is an ultra-rare metabolic disorder caused by the deficiency of a single enzyme (HPRT1). While this defect leads to a massive overproduction of uric acid and severe kidney issues, its most terrifying symptom is neurological. Patients, almost exclusively male children, are driven by an uncontrollable, involuntary compulsion to aggressively bite and consume their own lips, fingers, and inner cheeks. This is not a psychological self-harm mechanism; they feel the pain intensely and are fully conscious, often begging caregivers to restrain them to prevent their own bodies from attacking themselves. This textbook explores the brutal intersection of metabolic chemistry and behavioral neurology. We dissect the specific basal ganglia dysfunctions that override a patient's free will, forcing motor commands that the conscious mind desperately tries to resist. Face the darkest anomalies of the human genome. Discover how the absence of a single microscopic enzyme completely destroys the brain's control over its own preservation.

• Themen: Medizin Vorklinische Medizin, Grundlagenwissenschaften Genetik, Medizin
• ISBN: 9783565360086
• Sprache: Englisch
• Erscheinungsdatum: 26.03.2026
• Größe: 29.7 x 21 cm
• Verlag: epubli
• Empf. Lesealter: ab 1 Jahre