Skip to main content

Did You Know? Spain & AIP Link

                                    Did you Know?


Herrero C, To-Figueras J, Ingelmo M, Oliva R, Munoz C, Munoz E, Carreras C
Hospital Clinic i Provincial, Barcelona, Spain
Acute intermittent porphyria (AIP) is an autosomal dominant disorder with incomplete penetrance, caused by a deficiency of porphobilinogen deaminase (PBG-D) enzyme and characterised by acute neuropathic attacks. High prevalence is known in Sweden and in other areas of Europe. In Spain AIP occurs with very low prevalence but it may be underestimated. Material: Since 1992 fourteen patients with PAI attended the Hospital Clinic of Barcelona. We present the clinical, biochemical, enzymatic and genetic analysis of 8 of these patients and 17 close relatives. Methods: We analysed (a): urinary excretion of porphobilinogen (PBG) and delta-aminolevulinic acid (ALA); (b) erythrocyte PBG-D activity; (c) DNA analysis through SSCP and sequencing the PBG-D gene. Results: Increased PBG and ALA urinary excretion and decreased erythrocyte PBG-D activity were observed in all the AIP patients. Moreover, seven cases of asymptomatic AIP were found in the relatives by means of these techniques. Five PBG-D gene mutations have been identified. Three of the mutations detected in four of the families have been previously reported in other countries (730delCT in exon 12, 340insT and G11R in exon 7). Two of the mutations identified correspond to novel mutations; one of them is present in 3 of the 8 families studied (37.5%). A strong correlation between the presence of any of the mutations and a low PBG-D activity has been observed. Conclusions: The prevalence of AIP in Spain may be much higher than previously estimated. Therefore porphyrin, enzymatic and genetic analysis must be performed in the relatives in order to detect asymptomatic carriers. AIP in Spain is also a heterogeneous disease and two novel mutations have been identified, one of them could be particularly prevalent in this area.


  1. I suspect studies of the US prison population (where the US houses most of its mentally ill) would reveal a large number of undiagnosed cases of AIP. Change their diet, start zinc sulfate therapy, get them into a supportive environment and they could become whole again.


Post a Comment

Popular posts from this blog

Amazing patient advocacy....and needed media for this issue. Thank you Terri Witter!


What could it be?
Nerve Pain WHAT IS NEUROPATHIC PAIN? Neuropathic or nerve pain (NP) is a long-term or chronic pain disease that results from nerve damage. It can be caused by different diseases or conditions. Worldwide nerve pain affects as many as 26 million people. Neuropathic or nerve pain may affect larger areas of the body or it can be restricted to a smaller area, in this case it is called localized neuropathic pain (LNP). WHAT CAUSES NEUROPATHIC PAIN? Neuropathic or nerve pain may occur in the absence of an obvious visible cause (e.g. an accident, an injury, a chemical burn). There are several external situations that can directly damage nerves and lead to neuropathic pain, such as: Amputation of a limb (phantom pain, stump pain)Surgery (scar pain, post-surgery pain)Trauma or accident Neuropathic pain is also a common complication of other diseases, including nerve damage after shingles or herpes zoster infection (postherpetic neuralgia or PHN), nerve damage after HIV infectio…


GLOBAL PORPHYRIA ALLIANCE The APF is proud to support our members that live across the globe. Many countries around the world have developed organizations to support their local communities. We hope that enjoy the same opportunity to communicate with one another, develop friendships, and learn about porphyria. Here are links to patient advocacy groups worldwide that offer support to individuals impacted by porphyria. Argentina: Centro de investigaciones sobre porfirinas y porfirias | More informationAustralia: Porphyria Association, Inc. | More informationBrazil: Associação Brasileira de Porfiria | More informationCanada: Canadian Association for Porphyria | More informationColombia: Fundación Colombiana Para La Porfiria | More informationDenmark: (Porphyria Association Denmark)Denmark: (Danish Porphyria Support Group)England: British Porphyria AssociationFinland: Finnish Porphyria Support Group France: Association Française des Malades Atteints de Por…