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Mitochondrial complex II deficiency

MedGen UID:
344401
Concept ID:
C1855008
Disease or Syndrome
Synonyms: Complex 2 mitochondrial respiratory chain deficiency; Mitochondrial respiratory chain complex II deficiency; Mitochondrial Respiratory Chain Complex II Deficiency; Mitochondrial Respiratory Chain Complex II Deficiency, SDHA-Related; Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1-Related; Succinate CoQ reductase deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Genes: SDHAF1; SDHA
Cytogenetic locations: 19q13.12; 5p15.33
OMIM®: 252011
Orphanet: ORPHA3208

Definition

Complex II, also known as succinate dehydrogenase (EC 1.3.5.1), is part of the mitochondrial respiratory chain. Deficiency of complex II is characterized by highly variable phenotypic expression. [from OMIM]

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
A reflex found in normal infants consisting of dorsiflexion of the HALLUX and abduction of the other TOES in response to cutaneous stimulation of the plantar surface of the FOOT. In adults, it is used as a diagnostic criterion, and if present is a NEUROLOGIC MANIFESTATION of dysfunction in the CENTRAL NERVOUS SYSTEM.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Progressive leukoencephalopathy
MedGen UID:
344402
Concept ID:
C1855010
Finding
Cognitive impairment
MedGen UID:
383844
Concept ID:
C1856145
Finding
Seizures
MedGen UID:
409523
Concept ID:
C1959629
Finding
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Dystonia
MedGen UID:
504804
Concept ID:
CN001220
Finding
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Myoclonus
MedGen UID:
504806
Concept ID:
CN001224
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Leukoencephalopathy
MedGen UID:
505209
Concept ID:
CN002135
Finding
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Developmental regression
MedGen UID:
505217
Concept ID:
CN002158
Finding
Loss of developmental skills, as manifested by loss of developmental milestones.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
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.
Hypertrophic cardiomyopathy
MedGen UID:
504884
Concept ID:
CN001492
Finding
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Dilated cardiomyopathy
MedGen UID:
504887
Concept ID:
CN001497
Finding
Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis.
Increased serum lactate
MedGen UID:
332209
Concept ID:
C1836440
Finding
Stress/infection-induced lactic acidosis
MedGen UID:
505715
Concept ID:
CN004340
Finding
A form of lactic acidemia that occurs in relation to stress or infection.
Decreased activity of mitochondrial complex II
MedGen UID:
428800
Concept ID:
CN007310
Finding
A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.
Abnormal mitochondria in muscle tissue
MedGen UID:
446916
Concept ID:
CN007312
Finding
An abnormality of the mitochondria in muscle tissue.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
Neonatal hypotonia
MedGen UID:
331807
Concept ID:
C1834679
Finding
Ragged-red muscle fibers
MedGen UID:
477048
Concept ID:
C3275417
Finding
Spasticity
MedGen UID:
504771
Concept ID:
CN001152
Finding
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
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.
Exercise intolerance
MedGen UID:
505555
Concept ID:
CN003200
Finding
Increased intramyocellular lipid droplets
MedGen UID:
489838
Concept ID:
CN168648
Finding
An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See pmid 20691590 for histological images.
Flexion contracture
MedGen UID:
504817
Concept ID:
CN001256
Finding
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews

Recent clinical studies

Etiology

Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S481-7. Epub 2010 Nov 19 doi: 10.1007/s10545-010-9246-8. [Epub ahead of print] PMID: 21088898Free PMC Article
Bayley JP, Devilee P, Taschner PE
BMC Med Genet 2005 Nov 16;6:39. doi: 10.1186/1471-2350-6-39. [Epub ahead of print] PMID: 16288654Free PMC Article

Diagnosis

Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Ding Y, Song JQ, Shi XY, Zhang WN, Zhao M, Hu LY, Ju J, Wang ZL, Yang YL, Zou LP
Brain Dev 2014 May;36(5):394-8. Epub 2013 Jul 9 doi: 10.1016/j.braindev.2013.06.003. [Epub ahead of print] PMID: 23849264
Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW
J Med Genet 2012 Sep;49(9):569-77. doi: 10.1136/jmedgenet-2012-101146. PMID: 22972948Free PMC Article
Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S481-7. Epub 2010 Nov 19 doi: 10.1007/s10545-010-9246-8. [Epub ahead of print] PMID: 21088898Free PMC Article

Prognosis

Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Häberli A, Gallati S, Schaller A
J Med Genet 2014 Mar;51(3):170-5. Epub 2013 Dec 23 doi: 10.1136/jmedgenet-2013-101932. [Epub ahead of print] PMID: 24367056
Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S481-7. Epub 2010 Nov 19 doi: 10.1007/s10545-010-9246-8. [Epub ahead of print] PMID: 21088898Free PMC Article

Clinical prediction guides

Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S481-7. Epub 2010 Nov 19 doi: 10.1007/s10545-010-9246-8. [Epub ahead of print] PMID: 21088898Free PMC Article

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