Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging

American Journal of Neuroradiology

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Fig 1.
Clinicoradiologic contradiction. Both patients showed T2WI prolongation and no diffusion restriction in the putamen, but the BAD scores were very different.
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Fig 2.
Example of the selection of ROIs (red circle) from the DN, CBH, P, SN, GP, AP, PP, CH, Th, CR, CS, FL, PL, and TL of patients with GA-1. Radiologists manually drew the ROIs (16 mm² and 32 mm²) on the gray level of the MK map.
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Fig 3.
DKI values of ROI bar graphs in predefined ROIs with differences (P < .05) in the patients with GA-1 and healthy groups.
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Fig 4.
The association analyses with maximal correlation coefficients between the DKI metrics (FA, MD, MK, AK, and RK values) and the BAD scores.
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Fig 5.
ROC curve analyses (AP, PP, CH and GP) were performed for the diagnosis of GA-1 to assess the diagnostic performance in the brain structures of the DKI parameters with the strongest correlation. The AUCs of different parameters were compared.

Demographic characteristics of patients with GA-1 and healthy controls

Variable	GA-1 (n = 17)		HCs (n = 17)
Variable	Mean	Range	Mean	Range
Age (mo)	38 (SD, 17)	11–84	38 (SD, 17)	11–84
Sex (M/F)	6/11	–	6/11	–
BAD scores	14 (SD, 5)	4–22	0	0
Morbidity scores	2 (SD, 0.5)	1–3	0	0
Urinary glutaric acid (μmol/mol)^a	617 (SD, 725)	16.2–2937.62	–	–
Blood C5DC (μmol/mol)	4 (SD, 8)	0.19–38.07	–	–

Note:—C5DC indicates glutarylcarnitine; BAD, barry-albright dystonia; en dash, not applicable.
↵a Classified as high (urinary glutaric acid >100 mmol/mol) or low (<100 mmol/mol).