Tiglylglycine (TG) is associated with both mitochondrial and/or genetic disorders. Toxic chemical exposure may be one of the most common causes of mitochondrial dysfunction. In mitochondrial disorders of the respiratory chain, TG values are usually more moderately increased than in the genetic disorders. In the medical literature, a normal value is less than 3.8 mmol/mol creatinine in children.
It is an intermediate product of the catabolism of isoleucine and ketone bodies. TG is found at variable high concentration in the urine of patients with 2-methylacetoacetyl-CoA thiolase or 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiencies, which are inherited neurometabolic disorders affecting isoleucine catabolism. Biochemically, 2-methylacetoacetyl-CoA thiolase deficiency is characterized by intermittent ketoacidosis and urinary excretion of 2-methyl-acetoacetate (MAA), 2-methyl-3-hydroxybutyrate (MHB) and tiglyglycine (TG), whereas in MHBD deficiency only MHB and tiglylglycine accumulate. Typical clinical symptoms in both disorders include intermittent ketoacidotic episodes, seizures, and retardation. These diseases can be treated by switching to a diet low in protein and without isoleucine. In some cases, patients were asymptomatic until provoked by vaccinations or viral infection. In both disorders, biochemical abnormalities became more pronounced after a 100mg/kg oral isoleucine challenge. Tiglylglycine is also moderately elevated in short-chain acyl dehydrogenase (SCAD) deficiency, in propionyl CoA carboxylase, in methylmalonic aciduria, in the mitochondrial disorder Pearson syndrome (caused by mitochondrial DNA deletion), and in disorders of the respiratory chain in mitochondria.
Abnormal results may be confirmed by advanced mitochondrial DNA testing. Normal values of lactate and pyruvate do not rule out the presence of mitochondrial disorders; elevated TG should be considered a better marker of mitochondrial dysfunction than lactate or pyruvate levels. Extremely elevated values are likely due to genetic chromosomal mutations. Confirmation of genetic disorders requires DNA and/or enzyme testing at advanced biochemical genetics centers. Coenzyme Q-10 (300-600 mg), NAD 25 mg, L-carnitine and acetyl-L-carnitine (1000-2000 mg), riboflavin (40-80 mg), nicotinamide (40-80 mg), biotin (4-8 mg), and vitamin E (200-400 IU’s) per day may improve mitochondrial dysfunction. Hyperbaric oxygen therapy (HBOT) may also be beneficial. Discuss specific treatment regimen with your medical doctor.
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