Gag is diminished. He has no organomegally and the remainder of the exam is essentially normal except for mild generalized edema which developed after the institution of NG feeds. His work-up has included enzymatic assays for Krabbes, GM1 and 2 gangliosidoses, Niemann Pick, mannosidosis, fucosidosis, MLD which were all normal. Very long chain fatty acids were normal. He has a generalized non-specific organic aciduri thought to be secondary to Valproate.
Serum proline is elevated.
Serum lactate, pyruvate, and ammonia are normal. Click HERE to return to the Neurology Web-Forum Menu.