Dear Jan B:
The amino acid values obtained in the urine are variable and there is a large range found in "normal" values". However, this can be somewhat changed by minor changes in when the urine was collected (the first morning void when the amino acids have had a chance to accumulate-for instance). They can also be changed by diet, and individual amino acid uptake mechanisms in the kidney (also kidney function). Unless the values are extremely outside the range of normal, or are in a particular pattern, we usually do not call abnormal amino acids values in the urine. For instance, if you had maple syrup urine disease a certain profile of amino acids would be altered. Most of the time in mitochondrial disease investigation, we are looking for gross increases of amino acids in the urine testing for proximal renal tubular acidosis. Also, ruling out other diseases, such as the above mentioned maple syrup urine disease. I would not place too much emphasis on the urine amino acids. Much more important are the other lab values such as lactate, pyruvate, serum amino acids, urine organic acids, and then if needed the muscle biopsy with electron transport and oxidative phosphorylation determination and electron microscopy of the muscle.
I hope that your disease will be identified.
CCF Neuro MD
I forgot to ask if taking some of these amino acids as supplements would help my body make healthier cells or would I just be making very expensive urine. Red ragged fiber was found in my biopsy and abnormal EMG at the junctures and stress test/pulmonary function helped confirm my diagnosis.