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[Hereditary porphyria and acquired porphyria in the child. Five case reports]
1Laboratoire de biochimie, faculté de médecine et Laboratoire de biologie, hôpital d'enfants, Marseille, France.
Insights
This study details five cases of porphyrinopathies, including inherited and acquired forms. Diagnosis and treatment response were monitored using porphyrin and precursor levels.
Area of Science:
- Biochemistry
- Genetics
- Toxicology
Background:
- Porphyrinopathies are a group of genetic or acquired disorders affecting heme biosynthesis.
- Early diagnosis and monitoring are crucial for managing these conditions.
Observation:
- Two inherited cutaneous porphyrias (erythropoietic protoporphyria and familial cutaneous porphyria) were observed.
- Three acquired porphyrinopathies, including lead poisoning and hereditary tyrosinemia, were also studied.
Findings:
- Enzyme activities were reduced by 50% in inherited cases.
- Urinary and erythrocyte porphyrins, 5-aminolevulinic acid, and porphobilinogen levels were key diagnostic and monitoring markers.
Implications:
- This case series highlights the diagnostic utility of porphyrin and precursor analysis in diverse porphyrinopathy presentations.
- Effective management strategies can be guided by biochemical monitoring.
Abstract:
Two cases of inherited porphyrinopathies and three cases of acquired porphyrinopathies are described. The two inherited cases were cutaneous porphyrias with 50% reduction of enzyme activities: one case of erythropoietic protoporphyria in a 2 year-old male and one case of familial cutaneous porphyria in a 7 year-old boy. The three cases of acquired porphyrinopathy included one case of lead poisoning in a 3 year-old boy and 2 cases of hereditary tyrosinemia in 1 and 2 year-old infants. Urinary and erythrocytes porphyrins and precursors (5 aminolevulinic acid and porphobilinogen) levels were used for diagnosis and to follow the response to treatment.