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Sökning: WFRF:(Olpin S.) > (2020-2022) > Thermo-sensitive mi...

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FältnamnIndikatorerMetadata
00004767naa a2200697 4500
001oai:gup.ub.gu.se/316437
003SwePub
008240528s2022 | |||||||||||000 ||eng|
0247 a https://gup.ub.gu.se/publication/3164372 URI
0247 a https://doi.org/10.1002/jimd.125032 DOI
040 a (SwePub)gu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Schwantje, M.4 aut
2451 0a Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy
264 c 2022-05-05
264 1b Wiley,c 2022
520 a Mitochondrial trifunctional protein (MTP) is involved in long-chain fatty acid beta-oxidation (lcFAO). Deficiency of one or more of the enzyme activities as catalyzed by MTP causes generalized MTP deficiency (MTPD), long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), or long-chain ketoacyl-CoA thiolase deficiency (LCKATD). When genetic variants result in thermo-sensitive enzymes, increased body temperature (e.g. fever) can reduce enzyme activity and be a risk factor for clinical decompensation. This is the first description of five patients with a thermo-sensitive MTP deficiency. Clinical and genetic information was obtained from clinical files. Measurement of LCHAD and LCKAT activities, lcFAO-flux studies and palmitate loading tests were performed in skin fibroblasts cultured at 37 degrees C and 40 degrees C. In all patients (four MTPD, one LCKATD), disease manifested during childhood (manifestation age: 2-10 years) with myopathic symptoms triggered by fever or exercise. In four patients, signs of retinopathy or neuropathy were present. Plasma long-chain acylcarnitines were normal or slightly increased. HADHB variants were identified (at age: 6-18 years) by whole exome sequencing or gene panel analyses. At 37 degrees C, LCHAD and LCKAT activities were mildly impaired and lcFAO-fluxes were normal. Remarkably, enzyme activities and lcFAO-fluxes were markedly diminished at 40 degrees C. Preventive (dietary) measures improved symptoms for most. In conclusion, all patients with thermo-sensitive MTP deficiency had a long diagnostic trajectory and both genetic and enzymatic testing were required for diagnosis. The frequent absence of characteristic acylcarnitine abnormalities poses a risk for a diagnostic delay. Given the positive treatment effects, upfront genetic screening may be beneficial to enhance early recognition.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng
653 a long-chain fatty acid oxidation disorders
653 a long-chain ketoacyl-CoA
653 a thiolase deficiency
653 a mitochondrial trifunctional protein complex
653 a mitochondrial trifunctional protein deficiency
653 a myopathy
653 a thermo-sensitivity
653 a fatty-acid oxidation
653 a beta-oxidation
653 a defects
653 a pathophysiology
653 a dehydrogenase
653 a disorders
653 a mutations
653 a enzyme
653 a Endocrinology & Metabolism
653 a Genetics & Heredity
653 a Research & Experimental
653 a Medicine
7001 a Ebberink, M. S.4 aut
7001 a Doolaard, M.4 aut
7001 a Ruiter, J. P. N.4 aut
7001 a Fuchs, S. A.4 aut
7001 a Darin, Niklas,d 1964u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xdarin
7001 a Oldfors Hedberg, Carola,d 1969u Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine4 aut0 (Swepub:gu)xnordc
7001 a Regal, L.4 aut
7001 a Kaat, L. D.4 aut
7001 a Huidekoper, H. H.4 aut
7001 a Olpin, S.4 aut
7001 a Cole, D.4 aut
7001 a Moat, S. J.4 aut
7001 a Visser, G.4 aut
7001 a Ferdinandusse, S.4 aut
7102 a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org
7730 t Journal of Inherited Metabolic Diseased : Wileyg 45:4, s. 819-831q 45:4<819-831x 0141-8955x 1573-2665
8564 8u https://gup.ub.gu.se/publication/316437
8564 8u https://doi.org/10.1002/jimd.12503

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