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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]
The main phenotypical effect of autosomal recessive mutations, either compound heterozygous or homozygous, [6] in the SLC22A5 gene is systemic primary carnitine deficiency, [7] characterized by impaired carnitine transport, urinary carnitine wasting, low serum carnitine levels, reduced intracellular carnitine accumulation, impaired beta ...
L-Carnitine, acetyl-l-carnitine, and propionyl-l-carnitine are available in dietary supplement pills or powders, with a daily amount of 0.5 to 1 g considered to be safe. [1] [3] It is also a drug approved by the Food and Drug Administration to treat primary and certain secondary carnitine-deficiency syndromes secondary to inherited diseases. [1 ...
Systemic primary carnitine deficiency; V. Very long-chain acyl-coenzyme A dehydrogenase deficiency This page was last edited on 10 June 2017, at 17:01 (UTC). Text ...
Alpha 1-antitrypsin deficiency; Biotinidase deficiency; Hereditary angioedema; 277.7 Dysmetabolic syndrome X. Metabolic syndrome; 277.8 Other specified disorders of metabolism. 277.81 Primary carnitine deficiency; 277.82 Carnitine deficiency due to inborn errors of metabolism; 277.83 Iatrogenic carnitine deficiency; 277.84 Other secondary ...
Chronic fatigue associated with GSE is a systemic disorder, however there are neurological components that are especially manifest in blood deficiencies like avitaminosis, amineralosis and anemia. Reduced iron and the lack of vitamins folate, B 6 , B 12 and malabsorption of essential fatty acids can cause depression and chronic fatigue. [ 91 ]
A disorder is associated with carnitine-acylcarnitine translocase deficiency. This disorder disrupts the carnitine shuttle system from moving fatty acids across the mitochondrial membrane, leading to a decrease in fatty acid catabolism.
Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source. The disorder presents in one of three ...