Urea Cycle and Purine Metabolism
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Urea Cycle and Purine Metabolism conditions
Adenosine Deaminase DeficiencyAdenosine deaminase deficiency is a genetic disorder causing severe combined immunodeficiency by impairing lymphocyte development and function.Hyperammonemia (Acquired)Hyperammonemia (Acquired) involves elevated blood ammonia due to liver dysfunction or toxins, causing neurological symptoms like confusion and coma.Hyperammonemia (Hereditary)Hyperammonemia (Hereditary) is a genetic disorder causing elevated blood ammonia due to urea cycle enzyme deficiencies, leading to neurological symptoms and metabolic imbalance.Lesch-Nyhan SyndromeLesch-Nyhan Syndrome is a rare genetic disorder caused by HPRT deficiency, leading to uric acid buildup, neurological symptoms, and self-mutilation behaviors.Ornithine Transcarbamylase Deficiency (OTC Deficiency)Ornithine Transcarbamylase Deficiency (OTC Deficiency) is a genetic disorder causing impaired urea cycle function, leading to hyperammonemia and neurological symptoms.