Methotrexate and actinomycin D chemotherapy in a patient with porphyria: a case report

Table 3 Porphyria classification

Type of porphyria	Enzyme inheritance	Inheritance	Clinical manifestation			Urine concentration
			Skin	Neuropsychiatric
Plumboporphyria	Porphobilinogen synthase	AR, 9q34	-	++		ALA COPRO-gen III
Acute intermittent porphyria	Hydroxymethylbilane synthase	AD, 11q23	-	++	Abdominal pain, neuropathy, mental changes, and tachycardia	PBG σ-ALA
Congenital erythropoietic	Uroporphyrinogen III synthase	AR, 10q26	+	-	Skin lesion and hepatopathy in early childhood	UPG I COPRO-gen I
Porphyria cutanea tarda	Uroporphyrinogen decarboxylase	AD, 1q34	++	-	Dark urine, occurring after middle age	UPG
Hereditary coproporphyria	Coproporphyrinogen oxidase	AD, 9	+	+	Abdominal pain and peripheral, neuropathy	PBG>ALA COPRO-gen III
Variegate porphyria	Protoporphyrinogen oxidase	1q14	+	+		PBG>ALA COPRO-gen III
Erythropoietic protoporphyria	Ferrochelatase	18q21, 3	+	-	Skin lesion and hepatopathy in early childhood	Not increased (PP in erythrocyte)

AR autosomal recessive, ALA aminolevulinic acid, COPRO-gen coproporphyrinogen, AD autosomal dominant, PBG porphobilinogen, UPG uroporphyrinogen, PP protoporphyrin

ISSN: 1752-1947