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Table 1 Biochemical analyses of two new HPV cases

From: Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review

Sample

Metabolite (unit)

Patient 1 (at the age of 10 d)

Patient 2 (at the age of 6 ½ y)

Reference value

Blood

Soluble protoporphyrin in erythrocytes (nmol/l)

1583

1256

9–89

Total protoporphyrin in erythrocytes (nmol/l)

4176

4374

 < 500

Urine

Coproporphyrin/creatinine (µg/g)

Not quantifiable

3 277

 < 120

Uroporphyrin/creatinine (µg/g)

Not quantifiable

100

 < 33

Porphobilinogen/creatinine (µmol/g)

48

15

 < 8

5-aminolevulinacid (5-ALA)/creatinine (µmol/g)

92

71.7

 < 25

Total porphyrin/creatinine (µg/g)

34 128

3 477

 < 174

Faeces

Pentacarboxyporphyrin (µg/g)

104.2

Not obtained

 < 3

Coproporphyrin (µg/g])

65.9

Not obtained

 < 24

Total porphyrin (µg/g)

334

Not obtained

 < 85

  1. Urine, blood and faeces were analyzed in patient 1, urine and blood in patient 2. Both patients had highly elevated porphyrin levels in blood indicating a porphyria and very high protoporphyrin levels in erythrocytes. In patient 1, biochemical differentiation was complicated due to partially non-quantifiable values. In patient 2, biochemical analysis revealed a predominance of coproporphyrin. Reference values for porphyrin/creatinine quotients are established only for adults