Congenital Hypotonia

Summary

Evidence of profound mitochondrial oxidation lesions are seen in this infant with breathing difficulties.

This content was created by the Metametrix Institute

History

This infant has congenital hypotonia and requires constant suction to assist breathing. He has had various courses of antibiotics.

Age

1

Gender

Male

Description of Results

The significance of severe elevation for all three markers for carnitine insufficiency is strengthened by the lactic aciduria and extreme abnormalities in the citric acid cycle intermediates.

The energetic deficit has pervasive tissue consequences, including cardiac output and lung function, so the breathing difficulties are likely related to the metabolic lesion producing the abnormalities in organic acids. Normal neuro-endocrine responses can result in simultaneous increases in catecholamine and serotonin turnover as a compensatory response mechanism.

Strong up-regulation of hepatic cytochrome function is indicated by the off-scale glucarate, and urea cycle inadequacy is shown the the extreme elevation of orotate. Both of these may also be related to the fundamental lesion of mitochondrial oxidation that leaves many unoxidized compounds to stimulate other pathways.

Recommendations

Work as aggressively as possible to test the benefits of high dose coenzyme Q10 and carnitine therapy while assuring folate and vitamin B12 adequacy. Follow up testing on a shortened time scale (two weeks) will be helpful to monitor success.

Other Comments

Although the Metamemtrix ION profile is not designed specifically for the purpose of diagnosing inborn errors of metabolism, we see here the magnitude of abnormalities that turn up when such a condition is present. When the problem is not simple nutritional adequacy, but gene expression or polymorphism, one can not predict the degree of success that nutrient interventions will have. Still, we know that a significant percentage of such cases do respond when the nutrient-derived cofactor cocentrations are increased sufficiently.