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Primary coenzyme Q10 deficiency 8(COQ10D8)

MedGen UID:
908648
Concept ID:
C4225226
Disease or Syndrome
Synonyms: COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8
 
Gene (location): COQ7 (16p12.3)
 
Monarch Initiative: MONDO:0014754
OMIM®: 616733

Authors:
Leonardo Salviati  |  Eva Trevisson  |  Caterina Agosto, et. al.   view full author information

Additional descriptions

From GeneReviews Overview
Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.
From OMIM
Primary coenzyme Q10 deficiency-8 (COQ10D8) is characterized by a clinical spectrum ranging from spasticity or mildly progressive encephaloneuronephrocardiopathy to a fatal multisystemic disorder (Kwong et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (607426).  http://www.omim.org/entry/616733

Clinical features

From HPO
Pain
MedGen UID:
45282
Concept ID:
C0030193
Sign or Symptom
An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.
Renal dysplasia
MedGen UID:
760690
Concept ID:
C3536714
Congenital Abnormality
The presence of developmental dysplasia of the kidney.
Abnormal renal corticomedullary differentiation
MedGen UID:
870648
Concept ID:
C4025102
Anatomical Abnormality
An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla.
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Left ventricular hypertrophy
MedGen UID:
57442
Concept ID:
C0149721
Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A generalized disorder of peripheral nerves.
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.
Peripheral demyelination
MedGen UID:
451074
Concept ID:
C0878575
Pathologic Function
A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
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.
Flexion contracture
MedGen UID:
83069
Concept ID:
C0333068
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Elevated circulating creatinine concentration
MedGen UID:
148579
Concept ID:
C0700225
Finding
An increased amount of creatinine in the blood.
Oligohydramnios
MedGen UID:
86974
Concept ID:
C0079924
Pathologic Function
Diminished amniotic fluid volume in pregnancy.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Professional guidelines

PubMed

Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium, Schaefer F
Kidney Int 2022 Sep;102(3):592-603. Epub 2022 Apr 26 doi: 10.1016/j.kint.2022.02.040. PMID: 35483523

Recent clinical studies

Etiology

Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M
Arch Neurol 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. PMID: 22490322Free PMC Article
Ho MJ, Bellusci A, Wright JM
Cochrane Database Syst Rev 2009 Oct 7;(4):CD007435. doi: 10.1002/14651858.CD007435.pub2. PMID: 19821418

Diagnosis

Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C
Eur J Hum Genet 2024 Aug;32(8):938-946. Epub 2024 May 3 doi: 10.1038/s41431-024-01615-w. PMID: 38702428Free PMC Article
Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium, Schaefer F
Kidney Int 2022 Sep;102(3):592-603. Epub 2022 Apr 26 doi: 10.1016/j.kint.2022.02.040. PMID: 35483523
Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R
Expert Rev Mol Diagn 2015;15(8):1049-59. Epub 2015 Jul 4 doi: 10.1586/14737159.2015.1062727. PMID: 26144946
Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M
Arch Neurol 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. PMID: 22490322Free PMC Article

Therapy

Iványi B, Rácz GZ, Gál P, Brinyiczki K, Bódi I, Kalmár T, Maróti Z, Bereczki C
Pediatr Nephrol 2018 Mar;33(3):439-446. Epub 2017 Oct 14 doi: 10.1007/s00467-017-3814-1. PMID: 29032433
Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E, Salviati L
Biochim Biophys Acta 2016 Aug;1857(8):1079-1085. Epub 2016 Apr 7 doi: 10.1016/j.bbabio.2016.03.036. PMID: 27060254
Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, D'Agostino E, Solomon M, DiMauro S, Quinzii C, Hirano M
Arch Neurol 2012 Aug;69(8):978-83. doi: 10.1001/archneurol.2012.206. PMID: 22490322Free PMC Article
Ho MJ, Bellusci A, Wright JM
Cochrane Database Syst Rev 2009 Oct 7;(4):CD007435. doi: 10.1002/14651858.CD007435.pub2. PMID: 19821418
Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F
Arch Neurol 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317. PMID: 15710863

Prognosis

Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C
Eur J Hum Genet 2024 Aug;32(8):938-946. Epub 2024 May 3 doi: 10.1038/s41431-024-01615-w. PMID: 38702428Free PMC Article
Iványi B, Rácz GZ, Gál P, Brinyiczki K, Bódi I, Kalmár T, Maróti Z, Bereczki C
Pediatr Nephrol 2018 Mar;33(3):439-446. Epub 2017 Oct 14 doi: 10.1007/s00467-017-3814-1. PMID: 29032433

Clinical prediction guides

Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium, Schaefer F
Kidney Int 2022 Sep;102(3):592-603. Epub 2022 Apr 26 doi: 10.1016/j.kint.2022.02.040. PMID: 35483523
Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F
Arch Neurol 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317. PMID: 15710863

Recent systematic reviews

Drovandi S, Lipska-Ziętkiewicz BS, Ozaltin F, Emma F, Gulhan B, Boyer O, Trautmann A, Ziętkiewicz S, Xu H, Shen Q, Rao J, Riedhammer KM, Heemann U, Hoefele J, Stenton SL, Tsygin AN, Ng KH, Fomina S, Benetti E, Aurelle M, Prikhodina L, Schijvens AM, Tabatabaeifar M, Jankowski M, Baiko S, Mao J, Feng C, Deng F, Rousset-Rouviere C, Stańczyk M, Bałasz-Chmielewska I, Fila M, Durkan AM, Levart TK, Dursun I, Esfandiar N, Haas D, Bjerre A, Anarat A, Benz MR, Talebi S, Hooman N, Ariceta G; PodoNet Consortium; mitoNET Consortium; CCGKDD Consortium, Schaefer F
Kidney Int 2022 Sep;102(3):592-603. Epub 2022 Apr 26 doi: 10.1016/j.kint.2022.02.040. PMID: 35483523
Ho MJ, Bellusci A, Wright JM
Cochrane Database Syst Rev 2009 Oct 7;(4):CD007435. doi: 10.1002/14651858.CD007435.pub2. PMID: 19821418

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