Skip to main content

Table 1 CEMECO’s UCDs cohort description

From: Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Fam Pat Presentation Gene Alteration Protein Onset Remarks
I 1 Symptomatic female OTC delExon1–10   7 m ND †
2 Symptomatic female OTC delExon 1–10   3y ND, DA
3 Hemizygous neonatal onset OTC delExon 1–10   5d ND †
4 Asymptomatic female OTC delExon1–10    
5 Asymptomatic female OTC delExon1–10    
II 6 Hemizygous late onset OTC c.216 + 1G > A Affects splicing 2y  
7 Asymptomatic female OTC c.216 + 1G > A Affects splicing   
III 8 Hemizygous late onset OTC c.386G > A Affects splicing 6 m ND
9 Asymptomatic female OTC c.386G > A Affects splicing   
IV 10 Symptomatic female OTC c.452 T > G p.Leu151Arg 4y ND
V 11 Symptomatic female OTC c.533C > T p.Thr178Met 10 m ND
12 Hemizygous neonatal onset OTC c.533C > T p.Thr178Met 48-72hs ND †
13 Asymptomatic female OTC c.533C > T p.Thr178Met   
VI 14 Symptomatic female OTC c.540 + 1G > A Intronic 9 m ND
VII 15 Hemizygous neonatal onset OTC c.540 + 1G > A Intronic 48-72hs  
16 Asymptomatic female OTC c.540 + 1G > A Intronic   
VIII 17 Hemizygous late onset OTC c.622G > A p.Ala208Thr 8y  
18 Asymptomatic female OTC c.622G > A p.Ala208Thr   
IX 19 Hemizygous late onset OTC c.829C > T p.Arg277Trp 10y
20 Asymptomatic female OTC c.829C > T p.Arg277Trp   
X 21 Symptomatic female OTC dup1–9/del10 9 m
XI 22 Hemizygous neonatal onset OTC c.697delG p.Ala233Glnfs*14 48-72hs
23 Asymptomatic female OTC c.697delG p.Ala233Glnfs*14   
24 Asymptomatic female OTC c.697delG p.Ala233Glnfs*14   
XII 25 Hemizygous neonatal onset OTC NA NA 48-72hs
XIII 26 Symptomatic female OTC NA NA 48-72hs
XIV 27 Late ASS1 c.79 T > C / c.847G > A p.Gln27* / p.Glu283Lys 45d  
XV 28 Late ASS1 c.79 T > C / c.970G > A p.Gln27* / p.Gly324Ser 16d
XVI 29 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XVII 30 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XVIII 31 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XIX 32 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XX 33 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXI 34 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXII 35 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXIII 36 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXIV 37 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXV 38 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXVI 39 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXVII 40 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXVIII 41 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXIX 42 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXX 43 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXXI 44 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXXII 45 Neonatal ASS1 c.1168G > A /c.1168G > A p.Gly390Arg /p.Gly390Arg 48-72hs
XXXIII 46 Neonatal ASL c.857A > G/c.328G > T p.Gln286Arg/p.Gly110* 48-72hs
XXXIV 47 Late ASL c.857A > G/c.436C > T p.Gln286Arg/p.Arg146Trp 20 m  
XXXV 48 Neonatal ASL c.857A > G/c.857A > G p.Gln286Arg/p.Gln286Arg 48-72hs ND
XXXVI 49 Neonatal ASL c.857A > G/c.857A > G p.Gln286Arg/p.Gln286Arg 48-72hs
  1. ND Neurologic damage, †: deceased; DA Diagnosis in asymptomatic period, NA Not assessed