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Disordered Porphyrin Metabolism: A Potential Biological Marker for Autism Risk Assessment
Author(s) -
Heyer Nicholas J.,
Echeverria Diana,
Woods James S.
Publication year - 2012
Publication title -
autism research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.656
H-Index - 66
eISSN - 1939-3806
pISSN - 1939-3792
DOI - 10.1002/aur.236
Subject(s) - autism , porphyrin , psychology , neuroscience , computational biology , biology , developmental psychology , biochemistry
Autism ( AUT ) is a complex neurodevelopmental disorder that, together with A sperger's syndrome and P ervasive D evelopmental D isorder‐ N ot O therwise S pecified ( PDD ‐ NOS ), comprises the expanded classification of autistic spectrum disorder ( ASD ). The heterogeneity of ASD underlies the need to identify biomarkers or clinical features that can be employed to identify meaningful subtypes of ASD , define specific etiologies, and inform intervention and treatment options. Previous studies have shown that disordered porphyrin metabolism, manifested principally as significantly elevated urinary concentrations of pentacarboxyl (penta) and coproporphyrins, is commonly observed among some children with ASD . Here, we extend these observations by specifically evaluating penta and coproporphyrins as biological indicators of ASD among 76 male children comprising 30 with validated AUT , 14 with PDD ‐ NOS , and 32 neurotypical ( NT ) controls. ASD children ( AUT and PDD ‐ NOS ) had higher mean urinary penta ( P < 0.006) and copro ( P < 0.006) concentrations compared with same‐aged NT children, each characterized by a number of extreme values. Using R eceiver O perating C haracteristic curve analysis, we evaluated the sensitivity and specificity of penta, copro, and their combined Z‐scores in ASD detection. The penta sensitivity was 30% for AUT and 36% for PDD ‐ NOS , with 94% specificity. The copro sensitivity was 33% and 14%, respectively, with 94% specificity. The combined Z‐score measure had 33% and 21% sensitivity for AUT and PDD ‐ NOS , respectively, with 100% specificity. These findings demonstrate that porphyrin measures are strong predictors of both AUT and PDD ‐ NOS , and support the potential clinical utility of urinary porphyrin measures for identifying a subgroup of ASD subjects in whom disordered porphyrin metabolism may be a salient characteristic. A utism R es 2012,••: ••–•• . © 2012 I nternational S ociety for A utism R esearch, W iley P eriodicals, I nc.