You also want an ePaper? Increase the reach of your titles
YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.
Abdominal US scan: diffuse liver lesions and cortical renal<br />
thickening.<br />
Diagnosis: high plasma and urinary levels of tyrosine (2075<br />
μmol/l) and succinylacetoacetone. Molecular assay: compound<br />
heterozygote for two missense mutations:<br />
47A>T(N161) in exon 1 (pathogenic) and<br />
974C>A in exon 12 (probably pathogenic, although novel).<br />
Therapy:<br />
low phe and tyr diet, calcium, Vit. D3 and NTBC (1<br />
mg/kg/day) with rapid regression of main clinical and<br />
radiological signs and symptoms. Normal parameters within<br />
the first year of therapy.
Change language