Cytochrome oxidase deficiency presenting as birth asphyxia

Willis, Thomas A.; Davidson, Judith; Gray, R. G. F.; Poulton, Kelvin; Ramani, Pramila; Whitehouse, William P

doi:10.1017/s0012162200000761

Cited by 30 publications

(7 citation statements)

References 9 publications

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“…The only metabolic disorder with a diagnostic EEG is non-ketotic hyperglycinemia with an initial “suppression-burst” pattern, changing to hypsarrhythmia during early or mid-infancy and is diagnosed by measuring cerebrospinal fluid glycine levels (42). There are also individual case reports of IEM such as sulfite oxidase and cytochrome C deficiency presenting as NE (43, 44).…”

Section: Metabolic Disordersmentioning

confidence: 99%

Neonatal Encephalopathy: Need for Recognition of Multiple Etiologies for Optimal Management

2019

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Neonatal encephalopathy (NE) is associated with high mortality and morbidity. Factors predisposing to NE can be antenatal, perinatal, or a combination of both. Antenatal maternal factors, familial factors, genetic predisposition, hypoxic ischemic encephalopathy, infections, placental abnormalities, thrombophilia, coagulation defects, and metabolic disorders all have been implicated in the pathogenesis of NE. At present, therapeutic hypothermia is the only treatment available, regardless of etiology. Recognizing the etiology of NE involved can also guide investigations such as metabolic and sepsis workups to ensure optimal management. Understanding the etiology of NE may allow the development of targeted adjunctive therapies related to the underlying mechanism and develop preventative strategies.

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Section: Metabolic Disordersmentioning

confidence: 99%

Neonatal Encephalopathy: Need for Recognition of Multiple Etiologies for Optimal Management

2019

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“…Although profound in muscle with a residual activity of 19 %, the histochemical COX staining appeared normal. This unexpected finding may be a transient phenomenon since loss of COX staining occurring with time in serial muscle biopsies has been described earlier [20]. An isolated deficiency of complex IV of the respiratory chain is the most frequent biochemical defect found in Leigh syndrome patients, and accounts for about 45 % of all cases [2,10,13].…”

Section: Discussionmentioning

confidence: 81%

Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation

et al. 2006

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Cytochrome c oxidase deficiency (COX) is the most frequent cause of Leigh syndrome (LS), a mitochondrial subacute necrotizing encephalomyelopathy. Most of these LS (COX-) patients show mutations in SURF1 on chromosome 9 (9q34), which encodes a protein essential for the assembly of the COX complex. We describe a family whose first-born boy developed characteristic features of LS. Severe COX deficiency in muscle was caused by a novel homozygous nonsense mutation in SURF1. Segregation analysis of this mutation in the family was incompatible with autosomal recessive inheritance but consistent with a maternal disomy. Haplotype analysis of microsatellite markers confirmed isodisomy involving nearly the complete long arm of chromosome 9 (9q21-9tel). No additional physical abnormalities were present in the boy, suggesting that there are no imprinted genes on the long arm of chromosome 9 which are crucial for developmental processes. This case of segmental isodisomy illustrates that genotyping of parents is crucial for correct genetic counseling.

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“…We report the fourth patient with lipoic acid synthetase deficiency identified in this study. A small number of genetic disorders in energy or cofactor metabolism mimic the clinical and neuroimaging features of HIE, including cytochrome C oxidase deficiency, 18 pyridoxine dependent epilepsy, 19 molybdenum cofactor deficiency, 20 glycogen storage disease type IV, 21 and X-linked centronuclear myopathy. 22 Lipoic acid synthetase deficiency should be included in the differential diagnosis of HIE without a history of hypoxia.…”

Section: Discussionmentioning

confidence: 99%

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing

Bruun

Desroches

Wilson

et al. 2018

Genetics in Medicine

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PurposeNeonatal encephalopathy, which is characterized by a decreased level of consciousness, occurs in 1-7/1,000 live-term births. In more than half of term newborns, there is no identifiable etiological factor. To identify underlying genetic defects, we applied whole-exome sequencing (WES) in term newborns with neonatal encephalopathy as a prospective cohort study.MethodsTerm newborns with neonatal encephalopathy and no history of perinatal asphyxia were included. WES was performed using patient and both parents' DNA.ResultsNineteen patients fulfilling inclusion criteria were enrolled. Five patients were excluded owing to withdrawal of consent, no parental DNA samples, or a genetic diagnosis prior to WES. Fourteen patients underwent WES. We confirmed a genetic diagnosis in five patients (36%): epileptic encephalopathy associated with autosomal dominant de novo variants in SCN2A (p.Met1545Val), KCNQ2 (p.Asp212Tyr), and GNAO1 (p.Gly40Arg); lipoic acid synthetase deficiency due to compound heterozygous variants in LIAS (p.Ala253Pro and p.His236Gln); and encephalopathy associated with an X-linked variant in CUL4B (p.Asn211Ser).ConclusionWES is helpful at arriving genetic diagnoses in neonatal encephalopathy and/or seizures and brain damage. It will increase our understanding and probably enable us to develop targeted neuroprotective treatment strategies.

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Cytochrome oxidase deficiency presenting as birth asphyxia

Cited by 30 publications

References 9 publications

Neonatal Encephalopathy: Need for Recognition of Multiple Etiologies for Optimal Management

Neonatal Encephalopathy: Need for Recognition of Multiple Etiologies for Optimal Management

Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing

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