Acronym COXPD29 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

The first is the severe form, usually presented within the period of infancy and characterized by acute metabolic decompensation with a rapid deterioration, often presenting with CHF, severe hyperlactacidemia, and consequently early death. [frontiersin.org]

Van Goethem G, Mercelis R, Lofgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C (2003) Patient homozygous for a recessive POLG mutation presents with features of MERRF. Neurology 61:1811–1813 PubMed Google Scholar 27. [link.springer.com]

Analysis of the complement of ribosomal proteins present. J. Biol. [academic.oup.com]

• Developmental Delay

  0 - - COXPD-11 developmental delay; no autistic spectrum disorder; sensorineural hearing loss; seizures; hypotonia; lactic acidosis; renal abnormalities RMND1 RMND1 2 1 Johan den Dunnen [databases.lovd.nl]

  Combined oxidative phosphorylation deficiency-31 is an autosomal recessive multisystem disorder characterized by left ventricular noncompaction (LVNC), global developmental delay, and severe hypotonia. [ncbi.nlm.nih.gov]

  31 (show all 34) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488 2 increased serum lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002151 3 severe global developmental [malacards.org]

  Patients 2 and 3 presented with a mild form, with developmental delay, fatigability, and hyperlactacidemia. [frontiersin.org]

• Epilepsy

  Definition An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy [uniprot.org]

  /Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 29: An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy [malacards.org]

  ISCA2 Trichloroethylene toxicity Severe neonatal lactic acidosis with mtDNA depletion: SUCLG1; Multiple complex deficiencies Neonatal cardiomyopathy with lactic acidosis Portneuf spastic ataxia with leukoencephalopathy (SPAX3): MARS2 Microcephaly & Epilepsy [neuromuscular.wustl.edu]

  Authors Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM Title Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy [genome.jp]

  Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992;51:1187-1200 10. Ory DS, Neugeboren BA, Mulligan RC. [nejm.org]

• Feeding Difficulties

  [from NCI] Show allHide all Abnormality of head or neck Microcephaly Abnormality of metabolism/homeostasis Increased serum lactate Metabolic acidosis Abnormality of the digestive system Acute hepatic failure Cholestasis Feeding difficulties Hepatomegaly [ncbi.nlm.nih.gov]

  difficulties 31 HP:0011968 30 generalized tonic-clonic seizures 58 Very frequent (99-80%) 31 cerebellar atrophy 31 HP:0001272 32 generalized hypotonia 31 HP:0001290 33 delayed cns myelination 31 HP:0002188 34 seizure 31 HP:0001250 Symptoms via clinical [malacards.org]

• Poor Feeding

  […] increased csf lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002490 7 gastrointestinal dysmotility 58 31 hallmark (90%) Very frequent (99-80%) HP:0002579 8 diffuse cerebellar atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100275 9 poor [malacards.org]

  Breastfeeding was initiated within 30 min after birth, but the infant demonstrated poor feeding. At the 17th hour after delivery, the infant experienced a sudden onset of dyspnea, cyanosis, mild stridor, and difficulty in suction. [frontiersin.org]

• Weight Gain

  The pregnancy was complicated in the first trimester by poor weight gain secondary to nausea and vomiting, urinary tract and upper respiratory infections (treated with antibiotics) and mild hypertension in the final two weeks. [academic.oup.com]

• Respiratory Insufficiency

  Respiratory failure MedGen UID: 257837 •Concept ID: C1145670 • Disease or Syndrome A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal [ncbi.nlm.nih.gov]

• Global Developmental Delay

  Combined oxidative phosphorylation deficiency-31 is an autosomal recessive multisystem disorder characterized by left ventricular noncompaction (LVNC), global developmental delay, and severe hypotonia. [ncbi.nlm.nih.gov]

  developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0011344 4 decreased activity of mitochondrial complex i 58 31 hallmark (90%) Very frequent (99-80%) HP:0011923 5 optic neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001138 [malacards.org]

• Dystonia

  Swiss-Prot : 72 Combined oxidative phosphorylation deficiency 29: An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia [malacards.org]

  Definition An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy [uniprot.org]

• Peripheral Neuropathy

  Definition An autosomal recessive, infantile-onset, neurodegenerative disorder characterized by decreased activities of mitochondrial respiratory complexes I and III, severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy [uniprot.org]

• Poor Coordination

  coordination 58 31 hallmark (90%) Very frequent (99-80%) HP:0002370 10 myoclonic spasms 58 31 hallmark (90%) Very frequent (99-80%) HP:0003739 11 delayed myelination 58 31 hallmark (90%) Very frequent (99-80%) HP:0012448 12 abnormal autonomic nervous [malacards.org]

• Generalized Tonic-Clonic Seizure

  31 HP:0011968 30 generalized tonic-clonic seizures 58 Very frequent (99-80%) 31 cerebellar atrophy 31 HP:0001272 32 generalized hypotonia 31 HP:0001290 33 delayed cns myelination 31 HP:0002188 34 seizure 31 HP:0001250 Symptoms via clinical synopsis from [malacards.org]

“Diagnostic Workup of Patients with Mitochondrial Diseases,” in Inherited Metabolic Diseases, eds G. F. Hoffmann, J. Zschocke, and W. L. Nyhan (Berlin: Springer), 521–535. [frontiersin.org]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.org]

Individual ID ID_report Reference Remarks Gender Consanguinity Country Population Age at death VIP Data_av Treatment Disease Phenotype details Genes screened Variants in genes Variants Panel size Owner 00080919 - PubMed: Trujillano 2017 unaffected parents [databases.lovd.nl]

Author Contributions H-MY and Z-ML participated in the treatment for the patients, analyzed, and interpreted the data, acquired the literature data, wrote the manuscript, and created Table 2. [frontiersin.org]

Mitoplasts, which were prepared from fibroblasts by treatment with 0.8 mg of digitonin per milligram of protein, were solubilized with 1 percent lauryl maltoside, and 10 to 20 μg of the solubilized protein was used for electrophoresis. [nejm.org]

Ataxia, Hypogonadism & Choroidal dystrophy: Multiple deletion Isolated Complex I deficit: Nuclear mutations (MC1DN) Clinical features: General Nuclear mutations more common than mitochondrial Onset: Childhood; Mean = 4 to 5 months Male:Female = 3.5:1 Prognosis [neuromuscular.wustl.edu]

PMID: 18206410Free PMC Article Prognosis Koller A, Fazzini F, Lamina C, Rantner B, Kollerits B, Stadler M, Klein-Weigel P, Fraedrich G, Kronenberg F J Intern Med 2020 May;287(5):569-579. Epub 2020 Feb 9 doi: 10.1111/joim.13027. [ncbi.nlm.nih.gov]

Persistent head lag Poor eye contact Progressive neurologic deterioration Spasticity Abnormality of the respiratory system Respiratory failure Respiratory insufficiency Ear malformation Sensorineural hearing loss disorder Growth abnormality Failure to thrive Etiology [ncbi.nlm.nih.gov]

And the newborn’s phenotype (hyperlactacidemia and metabolic acidosis complicated with respiratory acidosis) is highly specific for a disease with a single genetic etiology (Table 1, PP4). [frontiersin.org]

The 5-taurinomethyluridine (τm5U) modification, identified in mt-tRNALeu(UUR) and mt-tRNATrp, is required for accurate decoding of purine-ending codons and prevent misreading of pyrimidine-ending codons, thereby promoting efficient decoding of cognate [frontiersin.org]