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Combined oxidative phosphorylation deficiency 48(COXPD48)

MedGen UID:
1732052
Concept ID:
C5436602
Disease or Syndrome
Synonyms: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
 
Gene (location): NSUN3 (3q11.2)
 
Monarch Initiative: MONDO:0033566
OMIM®: 619012

Clinical features

From HPO
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Hyperintensity of cerebral white matter on MRI
MedGen UID:
811125
Concept ID:
C2938912
Pathologic Function
A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.
Cerebral white matter atrophy
MedGen UID:
868341
Concept ID:
C4022735
Anatomical Abnormality
The presence of atrophy (wasting) of the cerebral white matter.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Lactic acidosis
MedGen UID:
1717
Concept ID:
C0001125
Disease or Syndrome
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Increased circulating lactate concentration
MedGen UID:
332209
Concept ID:
C1836440
Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
External ophthalmoplegia
MedGen UID:
57662
Concept ID:
C0162292
Disease or Syndrome
Paralysis of the external ocular muscles.
Decreased activity of mitochondrial complex I
MedGen UID:
393796
Concept ID:
C2677650
Finding
A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria.
Decreased activity of mitochondrial complex III
MedGen UID:
460434
Concept ID:
C3149083
Finding
A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria.
Decreased activity of mitochondrial complex IV
MedGen UID:
866520
Concept ID:
C4020800
Finding
A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.

Professional guidelines

PubMed

Hernández-Breijo B, Monserrat J, Ramírez-Rubio S, Cuevas EP, Vara D, Díaz-Laviada I, Fernández-Moreno MD, Román ID, Gisbert JP, Guijarro LG
World J Gastroenterol 2011 Sep 14;17(34):3899-911. doi: 10.3748/wjg.v17.i34.3899. PMID: 22025878Free PMC Article
Wejstål R, Alaeus A, Fischler B, Reichard O, Uhnoo I, Weiland O; Swedish National Expert Panel for the treatment of chronic hepatitis C
Scand J Infect Dis 2003;35(8):445-51. doi: 10.1080/00365540310013252. PMID: 14514142
Ito A, Yamasaki H, Nakao M, Sako Y, Okamoto M, Sato MO, Nakaya K, Margono SS, Ikejima T, Kassuku AA, Afonso SM, Ortiz WB, Plancarte A, Zoli A, Geerts S, Craig PS
Acta Trop 2003 Jun;87(1):95-101. doi: 10.1016/s0001-706x(03)00024-x. PMID: 12781383

Recent clinical studies

Etiology

Payne T, Burgess T, Bradley S, Roscoe S, Sassani M, Dunning MJ, Hernandez D, Scholz S, McNeill A, Taylor R, Su L, Wilkinson I, Jenkins T, Mortiboys H, Bandmann O
Brain 2024 Jan 4;147(1):267-280. doi: 10.1093/brain/awad364. PMID: 38059801Free PMC Article
Vivarelli F, Granata S, Rullo L, Mussoni M, Candeletti S, Romualdi P, Fimognari C, Cruz-Chamorro I, Carrillo-Vico A, Paolini M, Canistro D
Pharmacol Res 2022 Aug;182:106315. Epub 2022 Jun 17 doi: 10.1016/j.phrs.2022.106315. PMID: 35724819
Weisschuh N, Schimpf-Linzenbold S, Mazzola P, Kieninger S, Xiao T, Kellner U, Neuhann T, Kelbsch C, Tonagel F, Wilhelm H, Kohl S, Wissinger B
PLoS One 2021;16(7):e0253987. Epub 2021 Jul 9 doi: 10.1371/journal.pone.0253987. PMID: 34242285Free PMC Article
De Luca A, Nasi M, Di Giambenedetto S, Cozzi-Lepri A, Pinti M, Marzocchetti A, Mussini C, Fabbiani M, Bracciale L, Cauda R, Cossarizza A
J Acquir Immune Defic Syndr 2012 Feb 1;59(2):113-20. doi: 10.1097/QAI.0b013e31823daff3.. PMID: 22245716
Arning L, Haghikia A, Taherzadeh-Fard E, Saft C, Andrich J, Pula B, Höxtermann S, Wieczorek S, Akkad DA, Perrech M, Gold R, Epplen JT, Chan A
J Mol Med (Berl) 2010 Apr;88(4):431-6. Epub 2010 Jan 29 doi: 10.1007/s00109-010-0589-2. PMID: 20108082

Diagnosis

Liang M, Wu M, Jia C, Guo R, Cui R
Clin Nucl Med 2023 Apr 1;48(4):359-360. Epub 2023 Jan 12 doi: 10.1097/RLU.0000000000004542. PMID: 36630887
Saleh S, Beyyumi E, Al Kaabi A, Hertecant J, Barakat D, Al Dhaheri NS, Al-Gazali L, Al Shamsi A
Clin Genet 2021 Nov;100(5):573-600. Epub 2021 Aug 19 doi: 10.1111/cge.14044. PMID: 34374989
Weisschuh N, Schimpf-Linzenbold S, Mazzola P, Kieninger S, Xiao T, Kellner U, Neuhann T, Kelbsch C, Tonagel F, Wilhelm H, Kohl S, Wissinger B
PLoS One 2021;16(7):e0253987. Epub 2021 Jul 9 doi: 10.1371/journal.pone.0253987. PMID: 34242285Free PMC Article
Wejstål R, Alaeus A, Fischler B, Reichard O, Uhnoo I, Weiland O; Swedish National Expert Panel for the treatment of chronic hepatitis C
Scand J Infect Dis 2003;35(8):445-51. doi: 10.1080/00365540310013252. PMID: 14514142
Tanaka A, Miyakawa H, Luketic VA, Kaplan M, Storch WB, Gershwin ME
Cell Mol Biol (Noisy-le-grand) 2002 May;48(3):295-9. PMID: 12030434

Therapy

Wang R, Liu X, Sun C, Hu B, Yang L, Liu Y, Geng D, Lin J, Li Y
J Magn Reson Imaging 2024 Jul;60(1):327-336. Epub 2023 Oct 5 doi: 10.1002/jmri.29035. PMID: 37795920
Koufaki M
Expert Opin Ther Pat 2014 Sep;24(9):993-1005. Epub 2014 Aug 7 doi: 10.1517/13543776.2014.937425. PMID: 25101925
De Luca A, Nasi M, Di Giambenedetto S, Cozzi-Lepri A, Pinti M, Marzocchetti A, Mussini C, Fabbiani M, Bracciale L, Cauda R, Cossarizza A
J Acquir Immune Defic Syndr 2012 Feb 1;59(2):113-20. doi: 10.1097/QAI.0b013e31823daff3.. PMID: 22245716
Reiss P, Casula M, de Ronde A, Weverling GJ, Goudsmit J, Lange JM
HIV Med 2004 Jan;5(1):11-4. doi: 10.1111/j.1468-1293.2004.00178.x. PMID: 14731163
Vasile B, Rasulo F, Candiani A, Latronico N
Intensive Care Med 2003 Sep;29(9):1417-25. Epub 2003 Aug 6 doi: 10.1007/s00134-003-1905-x. PMID: 12904852

Prognosis

Duraj T, Kalamian M, Zuccoli G, Maroon JC, D'Agostino DP, Scheck AC, Poff A, Winter SF, Hu J, Klement RJ, Hickson A, Lee DC, Cooper I, Kofler B, Schwartz KA, Phillips MCL, Champ CE, Zupec-Kania B, Tan-Shalaby J, Serfaty FM, Omene E, Arismendi-Morillo G, Kiebish M, Cheng R, El-Sakka AM, Pflueger A, Mathews EH, Worden D, Shi H, Cincione RI, Spinosa JP, Slocum AK, Iyikesici MS, Yanagisawa A, Pilkington GJ, Chaffee A, Abdel-Hadi W, Elsamman AK, Klein P, Hagihara K, Clemens Z, Yu GW, Evangeliou AE, Nathan JK, Smith K, Fortin D, Dietrich J, Mukherjee P, Seyfried TN
BMC Med 2024 Dec 5;22(1):578. doi: 10.1186/s12916-024-03775-4. PMID: 39639257Free PMC Article
Tomcin S, Baier G, Landfester K, Mailänder V
Int J Nanomedicine 2014;9:5471-89. Epub 2014 Nov 26 doi: 10.2147/IJN.S70908. PMID: 25473285Free PMC Article
De Luca A, Nasi M, Di Giambenedetto S, Cozzi-Lepri A, Pinti M, Marzocchetti A, Mussini C, Fabbiani M, Bracciale L, Cauda R, Cossarizza A
J Acquir Immune Defic Syndr 2012 Feb 1;59(2):113-20. doi: 10.1097/QAI.0b013e31823daff3.. PMID: 22245716
Reiss P, Casula M, de Ronde A, Weverling GJ, Goudsmit J, Lange JM
HIV Med 2004 Jan;5(1):11-4. doi: 10.1111/j.1468-1293.2004.00178.x. PMID: 14731163
Wejstål R, Alaeus A, Fischler B, Reichard O, Uhnoo I, Weiland O; Swedish National Expert Panel for the treatment of chronic hepatitis C
Scand J Infect Dis 2003;35(8):445-51. doi: 10.1080/00365540310013252. PMID: 14514142

Clinical prediction guides

Duraj T, Kalamian M, Zuccoli G, Maroon JC, D'Agostino DP, Scheck AC, Poff A, Winter SF, Hu J, Klement RJ, Hickson A, Lee DC, Cooper I, Kofler B, Schwartz KA, Phillips MCL, Champ CE, Zupec-Kania B, Tan-Shalaby J, Serfaty FM, Omene E, Arismendi-Morillo G, Kiebish M, Cheng R, El-Sakka AM, Pflueger A, Mathews EH, Worden D, Shi H, Cincione RI, Spinosa JP, Slocum AK, Iyikesici MS, Yanagisawa A, Pilkington GJ, Chaffee A, Abdel-Hadi W, Elsamman AK, Klein P, Hagihara K, Clemens Z, Yu GW, Evangeliou AE, Nathan JK, Smith K, Fortin D, Dietrich J, Mukherjee P, Seyfried TN
BMC Med 2024 Dec 5;22(1):578. doi: 10.1186/s12916-024-03775-4. PMID: 39639257Free PMC Article
Kang YH, Jeong HJ, Park YJ
Toxicol Appl Pharmacol 2024 Nov;492:117102. Epub 2024 Sep 11 doi: 10.1016/j.taap.2024.117102. PMID: 39270854
Zhang Q, Ouyang Q, Xiang J, Li H, Lv H, An Y
Genes (Basel) 2023 Feb 22;14(3) doi: 10.3390/genes14030552. PMID: 36980825Free PMC Article
Hadar A, Voinsky I, Parkhomenko O, Puzianowska-Kuźnicka M, Kuźnicki J, Gozes I, Gurwitz D
Drug Dev Res 2022 Sep;83(6):1419-1424. Epub 2022 Jun 30 doi: 10.1002/ddr.21972. PMID: 35774024Free PMC Article
Ribera E, Paradiñeiro JC, Curran A, Sauleda S, García-Arumí E, Castella E, Puiggròs C, Crespo M, Feijoo M, Diaz M, Del Saz SV, Planas M, Sureda D, Falcó V, Ocaña I, Pahissa A
HIV Clin Trials 2008 Nov-Dec;9(6):407-17. doi: 10.1310/hct0906-407. PMID: 19203906

Recent systematic reviews

Zhang Q, Ouyang Q, Xiang J, Li H, Lv H, An Y
Genes (Basel) 2023 Feb 22;14(3) doi: 10.3390/genes14030552. PMID: 36980825Free PMC Article

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