Table 1.
Clinical Findings in Previously Reported Homozygous HCP Patients
| Family/Patient | Age at Diagnosis/Report | Major features | Neonatal Jaundice | Hepato-splenomegaly | Hemolytic Anemia | Cutaneous Photo-sensitivity | Reddish Urine | CPOX Mutations | Reference |
|---|---|---|---|---|---|---|---|---|---|
| Family 1 | |||||||||
| Patient 1 (M) | 8 y/11 y | Short Stature; Rickets; Riboflavin deficiency | − | − | − | − | − | Not done | Berger and Goldberg 1955 |
| Family 2 | |||||||||
| Patient 2 (F) | 4 y/20 y | Short Stature; Acute attacks | − | − | − | − | − | R331W/R331W |
Grandchamp et al 1977 Martasek et al 1994 |
| Family 3 | |||||||||
| Patient 3(F) | ?/10 y | Skin Fragility; Erythrodontia; Local erythema | − | − | − | + | − | H327R/H307R | Doss et al 1999 |
Abbreviations: CPOX, coproporphyrinogen oxidase.