Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 1; Mc5dn1

Description

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 1; Mc5dn1

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia
  • Cryptorchidism

And another 36 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 1; Mc5dn1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type.

Researches and researchers

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Mitochondrial Complex V (atp Synthase) Deficiency, Nuclear Type 1; Mc5dn1 Recommended genes panels

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ATPAF2 Comprehensive - Sequence & Deletion/Duplication Analysis.

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ATPAF2 Sequence Analysis.

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MitoMetĀ®Plus aCGH Analysis.

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RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

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Comprehensive Mitochondrial Metabolic Panel.

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Respiratory Chain Deficiency.

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2 %
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Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

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Sources and references

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OMIM Rare Disease Search Engine

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