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The diagnosis usually involves the following: clinical findings, the finding of 5-oxoprolinuria, low levels of glutathione, low activity of glutathione synthetase, and mutation analysis of the glutathione synthetase gene

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The contribution of individual deleted genes to the brain phenotypes is largely unknown, or unproven, because of the rarity of point mutations

Protein identification and data analysis MS/MS spectra were submitted to Sorcerer 2 (Sage-N Research) analysis using the SEQUEST algorithm as the search programme for peptide/protein identification

(In making these determinations, the MACs may consider factors such as authoritative drug compendia, current medical literature, recognized standards of medical practice, and professional medical publications.) (3) The drug is a compounded formulation with active ingredients derived only from a drug described in paragraph (a)(1) or (2) of this section and is orally or enterally administered