Table 2.

Porphyrin Concentration in Urine, Feces, and Erythrocytes of Patient and His Parents

Subject Age (yr)Erythrocytes UrineFeces
Proto (nmol/L) ALA (μmol/L)PBG (μmol/L) URO (nmol/L) Copro (nmol/L)Total Porphyrins (nmol)*Copro (%) Hardero (%) Proto (%)
Father  50  425  27  8  39 395  202  17  ND  83  
Mother  49  402 38  8  35  247  104  22  ND  71 
Patient  19  3,340  40  9  120  1,820  1,159 6.2  90  3  
Normal controls   <1,900  <38 <5  <50  <200  <200  <22  ND <75 
Subject Age (yr)Erythrocytes UrineFeces
Proto (nmol/L) ALA (μmol/L)PBG (μmol/L) URO (nmol/L) Copro (nmol/L)Total Porphyrins (nmol)*Copro (%) Hardero (%) Proto (%)
Father  50  425  27  8  39 395  202  17  ND  83  
Mother  49  402 38  8  35  247  104  22  ND  71 
Patient  19  3,340  40  9  120  1,820  1,159 6.2  90  3  
Normal controls   <1,900  <38 <5  <50  <200  <200  <22  ND <75 

Abbreviations: ALA, aminolevulinic acid; PBG, porphobilinogen; Copro, coproporphyrin; Hardero, harderoporphryin; URO, uroporphyrin; Proto, protoporphyrin; ND, not detected.

*

Results are expressed per gram dry weight.

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