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Mitochondrial complex V (ATP synthase) deficiency nuclear type 3(MC5DN3)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5E TYPE; Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3
Gene (location): ATP5F1E (20q13.32)
Monarch Initiative: MONDO:0013547
OMIM®: 614053


Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (MC5DN3) is an autosomal recessive disorder with variable manifestations. Affected individuals present soon after birth or in early infancy with hypotonia, respiratory distress, and poor sucking. They have global developmental delay with mildly impaired intellectual disability. Additional features may include dystonia, ataxia, peripheral neuropathy, and seizures. Congenital cataracts, hearing impairment, and mild left cardiac ventricular hypertrophy have been reported in 1 patient each. Laboratory studies show increased lactate; some patients have hyperammonemia, 3-methylglutaconic aciduria, and hyperCKemia (Mayr et al., 2010; Zech et al., 2022). For a general phenotypic description of the nuclear type of mitochondrial complex V deficiency and a discussion of genetic heterogeneity of mitochondrial complex V deficiency, see 604273. [from OMIM]

Clinical features

From HPO
3-Methylglutaconic aciduria
MedGen UID:
Concept ID:
Disease or Syndrome
An increased amount of 3-methylglutaconic acid in the urine.
Hypertrophic cardiomyopathy
MedGen UID:
Concept ID:
Disease or Syndrome
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.
Peripheral neuropathy
MedGen UID:
Concept ID:
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Intellectual disability
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Lactic acidosis
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
Decreased activity of mitochondrial ATP synthase complex
MedGen UID:
Concept ID:
A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies


Mackay L, Gijavanekar C, Streff H, Price JF, Elsea SH, Scaglia F
Am J Med Genet A 2023 May;191(5):1366-1372. Epub 2023 Feb 7 doi: 10.1002/ajmg.a.63131. PMID: 36751706

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