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Additionally, patients will often void a wine-red color urine with an increased concentration of uroporphyrin I due to their enzymatic deficiency.
Causes hemolytic anemia in carriers of the G6PD (favism) enzymatic deficiency.
There is a need for further explorations of this topic in order to fully assess the biochemical ramifications of this enzymatic deficiency.
Enzymatic deficiency in alpha-oxidation (most frequently in phytanoyl-CoA dioxygenase) leads to Refsum's disease, in which the accumulation of phytanic acid and its derivatives leads to neurological damage.
Porphyria is implicated in the origin of vampire myths because people with the disease tend to avoid the sun due to blistering and desire iron rich foods (blood and meat) due to their enzymatic deficiency.
Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids.