Academic Journal
Decreased activities of mitochondrial respiratory chain complexes in non‐mitochondrial respiratory chain diseases
| العنوان: | Decreased activities of mitochondrial respiratory chain complexes in non‐mitochondrial respiratory chain diseases |
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| المؤلفون: | MBBS, Joannie Hui, Kirby, Denise M, Thorburn, David R, Boneh, A vihu |
| المصدر: | Developmental Medicine & Child Neurology ; volume 48, issue 2, page 132-136 ; ISSN 0012-1622 1469-8749 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2006 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | The aim of this study was to illustrate the difficulties in establishing a diagnosis of mitochondrial respiratory chain (MRC) disorders based on clinical grounds in combination with intermediate activities of the MRC enzyme complexes. We reviewed retrospectively all medical and laboratory records of patients initially considered likely to have MRC disorders on clinical grounds, and subsequently diagnosed with other disorders ( n =20; 11 males, 9 females). Data were retrieved from hospital records, referral letters, and results of enzymatic analysis at a reference laboratory. Clinical symptoms included developmental delay, epilepsy, hypotonia, movement disorder, spastic quadriplegia, tetany, microcephaly, visual problems, carpopedal spasms, dysmorphism, hearing loss, muscle weakness and rhabdomyolysis, and fulminant hepatitis. Blood and cerebrospinal fluid lactate levels were elevated in 13/20 and 9/20 respectively. One or more MRC complex activities (expressed as ratios relative to citrate synthase and/or complex II activity) were less than 50% of control mean activity in 11/20 patients (including patients with deficiencies of pyruvate dehydrogenase complex, pantothenate kinase, holocarboxylase synthetase, long‐chain hydroxy acyl‐CoA dehydrogenase, molybdenum co‐factor, and neonatal haemochromatosis). One patient had a pattern suggestive of mitochondrial proliferation. We conclude that intermediate results of MRC enzymes should be interpreted with caution and clinicians should be actively looking for other underlying diagnoses. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1017/s0012162206000284 |
| DOI: | 10.1017/S0012162206000284 |
| الاتاحة: | http://dx.doi.org/10.1017/s0012162206000284 https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1017%2FS0012162206000284 https://onlinelibrary.wiley.com/doi/pdf/10.1017/S0012162206000284 |
| Rights: | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| رقم الانضمام: | edsbas.BD9257E5 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1017/s0012162206000284 |
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