ArticleOrphanet journal of rare diseases2013
SURF1 deficiency: a multi-centre natural history study.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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Who cites it
60 citing papers in PubMed, 133 citations in OpenAlex.
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- Endocrine Dysfunction in Primary Mitochondrial Diseases.Endocrine reviews · 2025Review
- Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments.Biomedicines · 2025Review
- Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.Journal of molecular medicine (Berlin, Germany) · 2025Article
- Valine and Inflammation Drive Epilepsy in a Mouse Model of ECHS1 Deficiency.bioRxiv : the preprint server for biology · 2024Article
- Novel Development of Magnetic Resonance Imaging to Quantify the Structural Anatomic Growth of Diverse Organs in Adult and Mutant Zebrafish.Zebrafish · 2024Article
- Mitochondrial disease and epilepsy in children.Frontiers in neurology · 2024Review
- Dystonia and Parkinsonism in COA7-related disorders: expanding the phenotypic spectrum.Journal of neurology · 2024Article
- Mitochondrial leak metabolism induces the Spemann-Mangold Organizer via Hif-1α in Xenopus.Developmental cell · 2023Article
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- N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome.Human molecular genetics · 2023Article
- Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.International journal of molecular sciences · 2023Article
- OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.Communications biology · 2023Article
- A multi-omics longitudinal aging dataset in primary human fibroblasts with mitochondrial perturbations.Scientific data · 2022Article
- Recent advances in mitochondrial diseases: From molecular insights to therapeutic perspectives.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2022Review
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Authors and funding
20 authors at 14 institutions in 2 countries.
Funding
Abstract
backgroundSURF1 deficiency, a monogenic mitochondrial disorder, is the most frequent cause of cytochrome c oxidase (COX) deficient Leigh syndrome (LS). We report the first natural history study of SURF1 deficiency.
methodsWe conducted a multi-centre case notes review of 44 SURF1-deficient patients from ten different UK centres and two Australian centres. Survival data for LRPPRC-deficient LS and nuclear-encoded complex I-deficient LS patients were obtained from previous publications. The survival of SURF1-deficient patients was compared with these two groups using Kaplan-Meier survival analysis and logrank test.
resultsThe majority of patients (32/44, 73%) presented in infancy (median 9.5 months). Frequent symptoms were poor weight gain (95%, median age 10 months), hypotonia (93%, median age 14 months), poor feeding/vomiting (89%, median age 10 months), developmental delay (88%, median age 14 months), developmental regression (71%, median age 19 months), movement disorder (52%, median age 24 months), oculomotor involvement (52%, median age 29 months) and central respiratory failure (78%, median age 31 months). Hypertrichosis (41%), optic atrophy (23%), encephalopathy (20%), seizures (14%) and cardiomyopathy (2%) were observed less frequently.
conclusionsSURF1-deficient patients have a homogeneous clinical and biochemical phenotype. Early recognition is essential to expedite diagnosis and enable prenatal diagnosis.
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