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As just noted, a significant portion of patients is not diagnosed during childhood, as diagnosis of the syndrome can be complex, especially when other psychiatric conditions are also associated

El-Ansary, A

Based on structural and genetic data studies of Acs enzymes from multiple species, the indole ring of a highly conserved tryptophan (W439 in Cn Acs1) limits the size of the acetyl-AMP pocket and is a key determinant of substrate specificity and inhibitor binding 25

While there is limited work exploring NK cell function in SMPD1 -deficient cancers, studies have suggested that upon SMPD1 knockdown, NK cell effector function was significantly enhanced

However, the process is relatively inefficient

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