Neurochemistry

Clinical/Contact Information:
See the Neurochemistry Laboratory page of the MGH Laboratory Handbook

The Clinical Neurochemistry/Amino Acid Disorders Laboratory has a special interest in disorders associated with abnormal metabolism of amino acids, organic acids, carnitine, and their derivatives.

The laboratory offers diagnostic testing for patients suspected of having an inborn error of metabolism, and subsequent monitoring of treatment for patients with various disorders, including homocystinuria, maple syrup urine disease, urea cycle disorders, hyperammonemic syndromes, methylmalonic acidemia, and other associated organic acid disorders.

The laboratory offers special procedures and tests, including fibroblast culture from skin biopsy, testing for biochemical genetic metabolic disorders, quantitative May 12, 2007lysis by gas chromatography-mass spectrometry, free and total carnitine determination, orotic acid, arginase activity, screening for succinylpurines, and DNA diagnostic testing for MCAD deficiency, MTHFR, fumarase, isolated sulfite oxidase deficiency, and cystathionine beta-synthase deficiency.