Summary:

K41 Fatty Acids - Erythrocytes
K68 Serum Chemistries
K90 ION

51

F

8/29/2003

History The patient has been for several years in the typical degenerative pattern of muscular dystrophy, a disease known to be accompanied by (causation not certain) oxidative damage and depletion of glutathione. When she tried to start taking the custom amion acid formula suggested in the ION report, she experiences severe muscle pains. Description of Results The following pattern demonstrates active stimulation of glutathione synthesis with depletion of methionine. Low plasma methionine High alpha-hydroxybutyrate (AHB) High pyroglutamate High sulfate Although no high limit had been set for sulfate, we have demonstrated a direct relationship between urinay levels of AHB and both sulfate and pyroglutamate. Gluitathione is a tripeptide of cysteine, glutamic acid, and glycine. In order for the principle sulfur amino acid, methionine to be converted into glutathione, it must undergo conversion to cysteine via cystathioinine. The cystathionine to cysteine reaction produces alpha-ketobutyrate that is reduced to alpha-hydroxybutyrate. Through this pathway, methionine is linked to AHB. The ultimate oxidation of sulfur to sulfate is increasseed whenever glutathione is being utilized at increased rates. This is the connection between urinary sulfate and glutathione. Finally, pyroglutamate is formed from a renal amino acid recovery pathway where glutathione is utilized. elevated pyroglutamate reveals a high rate of loss of glutathione in this pathway. Recommendations Glutathione production needs to be supported. Oral methionine might be used in some cases, but it is contraindicated in this patient who has a current homocysteine elevation. Other means of glutathione support of oral N-acteyl-cysteine, iv glutathione, oral silimarin, and high sulfur foods sucha as eggs. Antioxidant status must be built up to protect against further DNA damaging effects of oxidant stress. Other Comments Loss of the antioxidant function of glutathione may be a major factor in the greatly increased rate of DNA oxidative damage shown by the elevated 8-hydroxy-2'-deoxyguanosine. This patient also has insufficiencies of thiamin, cobalamine, pyridoxine, and biotin. In addition, the conditionally essential nutrients carnitine and coenzyme Q10 are needed. In such a state of oxidative challenge, an extra 10 g of mixed essential amino acids was apparently too much of a stimulation to mitochondrial oxidation. We suspect that the formula could be introduced slowly after a 2-3 week program of repletion for the multiple other micronutrients and antioxidants.

Lab Data Figure . Muscular dystrophy 01 paa.gif Figure . Muscular dystrophy 02 emin.gif Figure . Muscular dystrophy 03 svit.gif Figure . Muscular dystrophy 04 pfa.gif Figure . Muscular dystrophy 05 uoa1.gif Figure . Muscular dystrophy 06 uoa2.gif Figure . Muscular dystrophy 07 uoa3.gif