Etiological Analysis of Neurodevelopmental Disabilities: Single-Center Eight-Year Clinical Experience in South China
Figure 1
Chemical diagnosis of glutaric acidemia type I by GC-MS analysis of urinary metabolites for a 9-month-old female with motor and language retardation. Figure 1(a) is a representative GC-MS total ion current (TIC) profile, in which intensities of peak 1 and 2 were both dramatically increased. IS is the abbreviation of internal standard. Figures 1(b) and 1(c), the mass spectra for peak 1 and 2 in Figure 1(a), revealed their identifications as trimethylsilyl derivatives of glutarate and 3-hydroxyglutarate, respectively.
