Assessing nutritional status of acute intermittent porphyria patients

García‐Diz, Luis; Murcia, M Antonia; Gris, Jean‐Christophe; Pons, Antoni; Monteagudo, Celia; Martínez‐Tomé, Magdalena; Jiménez-Monreal, Antonia M.

doi:10.1111/j.1365-2362.2012.02673.x

Cited by 20 publications

(19 citation statements)

References 27 publications

(49 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although GPX activity in porphyria patients seems to be normal, glutathione is necessary for this enzyme to function properly. In this context, intracellular levels of glutathione are dependent of many environmental factors which include diet antioxidants that in many cases are deficient in AIP patients, such is the case for vitamin E [9]. Taking all these results altogether (and those previously reported for VP), the circulating cells of porphyria patients (both AIP and VP) generate a higher amount of H 2 O 2 than healthy controls with a potential impairment in the detoxifying mechanism for these compound, facing these cells with a potential situation of oxidative stress which is apparently not manifested in basal, non-prompted conditions, as evidenced by the similar protein carbonyl content between AIP patients and controls.…”

Section: Resultsmentioning

confidence: 99%

“…AIP patients carried a mutation in the 12 exon (30-bp deletion) 669–698 position, 11 g 23Æ3 locus, and presented PBGD enzyme activity decreased by 50%. A complete clinical, biochemical and anthropometric characterisation of these patients has already been published [9,12]. Control group was formed by 16 healthy volunteers (11 females and 5 males) who shared similar age, height and weight values as the patients.…”

Section: Methodsmentioning

confidence: 99%

“…It has been well described that the chronic accumulation of haem precursors could enhance reactive oxygen species (ROS) production and generate an unbalanced oxidative situation, especially in patients with low exogenous antioxidant defences such as porphyria patients [6–9]. In fact, erythrocytes of VP patients accumulate oxidative damage markers [10] and their lymphocytes are more susceptible to suffer from DNA damage after stress stimulation with hydrogen peroxide [11].…”

Section: Introductionmentioning

confidence: 99%

“…In addition, oxidative damage could be enhanced by low levels of endogenous and exogenous antioxidants, such as vitamin E [7,8]. In this context, a recent study has demonstrated that AIP patients present a deficient intake of antioxidant vitamins [9]. …”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients

et al. 2016

Self Cite

View full text Add to dashboard Cite

The aims of the present study were to explore the expression pattern of haem biosynthesis enzymes in circulating cells of patients affected by two types of porphyria (acute intermittent, AIP, and variegate porphyria, VP), together with the antioxidant enzyme pattern in AIP in order to identify a possible situation of oxidative stress. Sixteen and twelve patients affected by AIP and VP, respectively, were analysed with the same numbers of healthy matched controls. Erythrocytes, neutrophils and peripheral blood mononuclear cells (PBMCs) were purified from blood, and RNA and proteins were extracted for quantitative real time PCR (qRT-PCR) and Western-blot analysis, respectively. Porhobilinogen deaminase (PBGD) and protoporphyrinogen oxidase (PPOX) gene and protein expression was analysed. Antioxidant enzyme activity and gene expression were additionally determined in blood cells, together with protein carbonyl content in plasma. PBMCs isolated from AIP patients presented low mRNA levels of PBGD when compared to controls, while PBMCs isolated from VP patients presented a decrease in PPOX mRNA. PPOX protein content was higher in AIP patients and lower in VP patients, compared to healthy controls. Regarding antioxidant enzymes, PBMCs and erythrocyte superoxide dismutase (SOD) presented statistically significant higher activity in AIP patients compared to controls, while catalase activity tended to be lower in these patients. No differences were observed regarding antioxidant gene expression in white blood cells. Circulating cells in AIP and VP patients present altered expression of haem biosynthetic enzymes, which could be useful for the differential diagnosis of these two types of porphyria in certain difficult cases. AIP patients present a condition of potential oxidative stress similar to VP patients, evidenced by the post-transcriptional activation of SOD and possible catalase impairment.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients

et al. 2016

Self Cite

View full text Add to dashboard Cite

show abstract

“…Although high carbohydrate diets have previously been advocated as integral to preventing future AIP attacks, and were commonly used in the treatment of AIP prior to heme availability, the benefit of high carbohydrate diets has not been scientifically proven [25].…”

Section: Citation: Valente Jr Mody MD Ramonell Rp Yin M Mcclung Rmentioning

confidence: 99%

Untitled

2016

NRT

View full text Add to dashboard Cite

show abstract

Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran

To‐Figueras

Wijngaard

García‐Villoria

et al. 2021

J of Inher Metab Disea

View full text Add to dashboard Cite

Acute intermittent porphyria (AIP) is a rare metabolic disease caused by mutations within the hydroxymethylbilane synthase gene. Previous studies have reported increased levels of plasma total homocysteine (tHcy) in symptomatic AIP patients.In this study, we present long-term data for tHcy and related parameters for an AIP patient cohort (n = 37) in different clinical disease-states. In total, 25 patients (68%) presented with hyperhomocysteinemia (HHcy; tHcy > 15 μmol/L) during the observation period. HHcy was more frequent in AIP patients with recurrent disease receiving heme arginate, than in nonrecurrent (median tHcy: 21.6 μmol/L; range: 10-129 vs median tHcy: 14.5 μmol/L; range 6-77). Long-term serial analyses showed a high within-person tHcy variation, especially among the recurrent patients (coefficient of variation: 16.4%-78.8%). HHcy was frequently associated with low blood concentrations of pyridoxal-5 0 -phosphate and folate, while cobalamin concentration and the allele distribution of the methylene-tetrahydrofolatereductase gene were normal. Strikingly, 6 out of the 9 recurrent patients who were later included in a regime of givosiran, a small-interfering RNA that effectively reduced recurrent attacks, showed further increased tHcy (median tHcy in 9 patients: 105 μmol/L; range 16-212). Screening of amino acids in plasma by liquid-chromatography showed co-increased levels of methionine (median 71 μmol/L; range 23-616; normal <40), suggestive of acquired deficiency of cystathionine-β-synthase. The kynunerine/tryptophan ratio in plasma was, however, normal, indicating a regular metabolism of tryptophan by heme-dependent enzymes. In conclusion, even if HHcy was observed in AIP patients receiving heme arginate, givosiran induced an aggravation of the dysregulation, causing a coincrease of tHcy and methionine resembling classic homocystinuria.

show abstract

Assessing nutritional status of acute intermittent porphyria patients

Abstract: The patients with AIP studied individually show an increased risk of malnutrition and, given the potential increase of oxidative stress in patients with porphyria, it is recommended that they should increase their intake of carbohydrates, minerals and antioxidant nutrients.

Cited by 20 publications

References 27 publications

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients

Untitled

Dysregulation of homocysteine homeostasis in acute intermittent porphyria patients receiving heme arginate or givosiran

Contact Info

Product

Resources

About