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Gamma-butyrobetaine dioxygenase (also known as BBOX, GBBH or γ-butyrobetaine hydroxylase) is an enzyme that in humans is encoded by the BBOX1 gene. [5] [6] Gamma-butyrobetaine dioxygenase catalyses the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthesis pathway. [7]
Carnitine has no effect on most parameters in end-stage kidney disease, although it may lower C-reactive protein, a biomarker for systemic inflammation. [26] Carnitine blood levels and muscle stores can become low, which may contribute to anemia , muscle weakness, fatigue, altered levels of blood fats, and heart disorders. [ 1 ]
Carnitine-acylcarnitine translocase deficiency has an autosomal recessive pattern of inheritance. Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty acids into energy, particularly during periods without food. [ 1 ]
The presentation of patient with SPCD can be incredibly varied, from asymptomatic to lethal cardiac manifestations. [5] Early cases were reported with liver dysfunction, muscular findings (weakness and underdevelopment), hypoketotic hypoglycemia, cardiomegaly, cardiomyopathy and marked carnitine deficiency in plasma and tissues, combined with increased excretion in urine. [5]
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In other studies, GPLC has been shown to have no effect on aerobic and anaerobic exercise performance, with results showing that up to 3 grams per day for 8 weeks in conjunction with aerobic-exercise training is ineffective for increasing muscle carnitine content and has no significant effects on aerobic- or anaerobic-exercise performance. [7]
Nephrotoxicity is toxicity in the kidneys. It is a poisonous effect of some substances, both toxic chemicals and medications, on kidney function. [1] There are various forms, [2] and some drugs may affect kidney function in more than one way. Nephrotoxins are substances displaying nephrotoxicity.
This illustration demonstrates the normal kidney physiology, including the Proximal Convoluted Tubule (PCT), Loop of Henle, and Distal Convoluted Tubule (DCT). It also includes illustrations showing where some types of diuretics act, and what they do. Renal physiology (Latin renes, "kidneys") is the study of the physiology of the kidney.