Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China
Figure 2
Chemical diagnosis of citrin deficiency by MS-MS analysis of amino and acyl carnitines in dried blood stain from a 16-month-old male toddler (C0013) with syndromic GDD. Figures 2(a), 2(b), and 2(c) are profiles of neutral loss scan, precursor scan, and multiple reaction monitoring, respectively. The amino and acyl carnitines with increased levels were labeled as abbreviations, with Met, Tyr, Gly, Cit, C0, C16, and C18 : 1 representing methionine, tyrosine, glycine, citrulline, free carnitine, palmitate, and hydroxypalmitate, respectively.
