PMC10017521_01
PMC10017521_02
MRI axial T2-w images show asymmetric tumefactive lesions of the temporal and parietal white matter, increase in size of subarachnoid spaces and subtle frontal bilateral subdural collections (A, B). On AngioRM sequence intracranial arteries tortuosity is evident (C, D).
fgene-14-1077625-g002.jpg
PMC10017521_02_fgene-14-1077625-g002.jpg
F2
Brain MRI, performed at 5 months of age, showed increase in size of subarachnoid cerebellar and cerebral spaces and ventricular system; subtle frontal bilateral subdural collections, extensive asymmetric tumefactive lesions of the temporal, parietal and occipital white matter, swelling and T2 weighted images hyperintensity of basal ganglia bilaterally, increase of perivascular spaces with cystic appearance in frontal lobes, abnormal myelination of white matter and thinned corpus callosum (Figures 2A,B). On AngioRM sequence marked intracranial artery tortuosity was evident (Figures 2C,D).
PMC10017521_03
Pedigree of the family (A). Location of ATP7A variant (p.Ala1217Aspfs*2) at protein level. ATP7A has six copper binding sites (Cu), eight transmembrane domains, an activation domain (A), a phosphorylation domain (P), and a nucleotide domain (N) (B).
fgene-14-1077625-g001.jpg
PMC10017521_03_fgene-14-1077625-g001.jpg
F1
This pattern in Figure 3A is considered characteristic for ACY1 deficiency. The variant, shown in Figure 1B at protein level, introduces a premature termination codon, thus resulting in a truncated protein or in the complete absence of the protein, due to the non-sense-mediated decay predicted by MutationTaster tool.
Section of the total-ion chromatogram of urinary organic acid of the patient after extraction with ethylacetate and derivatization with BSTFA + TMCS (1%) at 60 C for 30 min. IS (Internal Standard). In the figure the TMS derivatives of the N-acetylated amino acids are highlighted with capital letters: (A) N-acetyl-alanine; (B) N-acetyl-glycine; (C) N-acetyl-leucine; (D) N-acetyl-isoleucine; (E) N-acetyl-methionine; (F) N-acetyl-glutamate (A). Normal pattern (B).
fgene-14-1077625-g003.jpg
PMC10017521_03_fgene-14-1077625-g003.jpg
F3
This pattern in Figure 3A is considered characteristic for ACY1 deficiency.