Abstract: The present invention relates to a cell capable of producing recombinant human LAMAN (rhLAMAN), said cell comprising the 3066 basepair EcoRI-XbaI fragment of a human cDNA which codes for a human LAMAN protein in which the position corresponding to position 186 of the full length hLAMAN protein is Aspartic acid (Asp, D). In particular, the invention relates to a cell comprising a DNA sequence which codes for the amino acid sequence shown in SEQ ID NO 12. One embodiment is an expression plasmid pLamanExp1 having the sequence shown in SEQ ID NO. 2.

Abstract: A process for purification of recombinant porphobilinogen deaminase (rhPBGD) on an industrial scale by starting from a rhPBGD containing extract obtained from a fermentation of a recombinant cell capable of expressing the rhPBGD and the use of the purified product for the preparation of a medicament.

Abstract: A method for treatment or prophylaxis of disease caused by deficiency, in a subject, of an enzyme belonging to the heme biosynthetic pathway, the method comprising administering, to the subject, an effective amount of a catalyst which is an enzyme or an enzymatically equivalent part or analogue thereof. The disease is selected from the group consisting of acute intermittent porphyria (AIP), ALA deficiency porphyria (ADP), Porphyria cutanea tarda (PCT), Hereditary coproporphyria (HCP), Harderoporphyria (HDP), Variegata prophyria (VP), Congenital erthropoetic porphyria (CEP), Erythropoietic protoporphyria (EPP), and Hepatoerythropoietic porphyria (HEP).