Galactosemia other imaging

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Additional imaging with diffusion weighted MRI and radionuclides also aid in the diagnosis of galactosemia.

Other imaging modalities

Diffusion-weighted imaging[1]

Hypointense lesions within the white matter with higher apparent diffusion coefficient values

MR Spectroscopy[1]

Gal-ol signal intensity within the parieto-occipital white matter

Per-rectal portal scintigraphy[2]

Serial scintigrams after per-rectal instillation of technetium 99m-pertechnate may show evidence of portosystemic shunts in galactosemic individuals without enzyme deficiency. The blood galactose levels can also be measured by this method in a non-invasive manner with minimal exposure to the radionuclide.


  1. 1.0 1.1 Otaduy MC, Leite CC, Lacerda MT, Costa MO, Arita F, Prado E; et al. (2006). "Proton MR spectroscopy and imaging of a galactosemic patient before and after dietary treatment". AJNR Am J Neuroradiol. 27 (1): 204–7. PMC 7976095 Check |pmc= value (help). PMID 16418384.
  2. Shiomi S, Sasaki N, Ikeoka N, Kuroki T, Okano Y, Kawabe J; et al. (1998). "Usefulness of per-rectal portal scintigraphy with Tc-99m pertechnetate for galactosemia in infants". Ann Nucl Med. 12 (6): 375–8. doi:10.1007/BF03164928. PMID 9972376.