Percorrer por autor "Murteira, F."
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- After all, Porphyria exists in Portugal! A three-year studyPublication . Ferreira, Filipa; Carmona, Célia; Lopes, A.; Ramos, S.; Nogueira, Célia; Pereira, Cristina; Pavão, C.; Oliveira, F.; Pimenta, R.; Brasão, L.; Ladeira, N.; Freitas, E.; Araújo, G.; Murteira, F.; Soeiro, B.; Queirós, P.; Mesquita, A.; Viegas, C.; Couto, E.; Madaleno, J.; Ferreira, F.; Campos, T.; Araújo, J.; Fernandes, A.; Jacinto, C.; Silva, G.; Santos, T.; Silva, I. Ferreira; Gomes, D.; Brito-Avô, L.; Moreira, S.; Oliveira, A.; Vilarinho, LauraIntroduction: Porphyrias are a group of eight rare inherited disorders, each caused by a defect in a specific enzymatic step of heme biosynthesis. These disorders are multisystemic, with variable symptoms, and represent a major burden for patients and families, with disabling chronic symptoms scattered with life-threatening acute attacks. There are two main clinical types of porphyria: acute porphyria and cutaneous porphyria. Acute porphyrias are often misdiagnosed because of their diverse clinical manifestations, which can mimic other diseases . Methods: Porphyrin precursor accumulation patterns and total urine porphyrins (TUP) are the first-line laboratory tests. The determination of porphyrin profiles in biological samples and the plasmatic emission fluorescence peak are the second-line tests. The NGS porphyria panel is the third-line test. Results/Case report: In Portugal, our unit (URN-INSA, Porto), also an associate member of IpNet (International Porphyria Network), is currently considered the reference laboratory for the biochemical and molecular characterization of porphyria. Since 2022, a cohort of 139 patients has been screened for porphyria. The development of acute and cutaneous diagnostic algorithms has resulted in 34 porphyrias: 5 cases of Acute Intermittent Porphyria (AIP), 1 Variegata Porphyria (VP), 2 Hereditary Coproporphyria (HCP), 23 Porphyria Cutanea Tarda (PCT) and 3 Erythropoietic Protoporphyria (EPP). Conclusion: Even so, these figures are lower in comparison to other similar countries, as we should have a higher prevalence. This diagnosis was not available in our country, which is now possible at URN-INSA. From this work, we have concluded that the articulation between the clinician and the laboratory is crucial to choosing the right biochemical test to achieve the correct diagnosis and complete characterization of the disease. Porphyria exists; we just have to look for it!
- Serine metabolism disorder - one more metabolic aetiology of cerebral palsyPublication . Santos, Helena; Almeida, N.; Murteira, F.; Miranda, J. Rocha; Pereira, S. Aires; Santos, F.; Nogueira, Célia; Wortmann, S.; Wevers, R.; Vilarinho, LauraIntroduction: Cerebral palsy (CP) refers to a group of neurological disorders caused by damaage or abnormalities of the developing brain, disrupting its ability to control movement and maintain posture and balance. Usually attributed to labour occurrences, metabolic and genetic disorders are increasingly being identified as main aetiological factors. Serine metabolism disorder involving SLC1A4 gene encoding for ASCT1 transporter are being described as one of the metabolic aetiologies associated to cerebral palsy. Results/Case report: We present a 21-year-old female, born at term from non-consanguineous parents. Low Apgar scores, diagnosed with dystonic cerebral palsy. She developed progressive microcephaly, severe psychomotor delay, no language, non-epileptic startle episodes, agitation, scoliosis, oropharyngeal dysphagia and MALT gastric lymphoma. Brain MRI showed marked postero-anterior graded hypomyelination, thin corpus callosum, mild brainstem hypoplasia. Metabolic investigation showed normal mitochondrial respiratory chain activity and mild mtDNA depletion (60%). Mitochondrial disorders gene panel and clinical exome were inconclusive. The patient was proposed to trio whole genome sequencing (WGS) in ZOEMBA® - International genomic discovery study, and two probably pathogenic biallelic variants c.272T>C (p.Leu91Pro) and c.1277del (p.Gly426Glufs*22) were identified in SLC1A4 gene, encoding for ASCT1 transporter. Conclusion: ASCT1 transporter is a brain serine transporter encoded by SLC1A4 gene, and responsible for SPATCCM - spastic tetraplegia, thin corpus callosum, and progressive microcephaly disorder (MIM #616657). Serine, although a non-essential aminoacid, needs to by synthesized in the brain and shuttle from astrocytes to neuron by this transporter. The clinical phenotype of ASCT1 defect is similar to defects in L-serine biosynthesis. Serine supplementation therapy was proposed as a possible therapeutic tool but only if started before neurological damage occurs.(1)