We describe a boy presenting at the end of the first year of life with severely delayed motor development and only mild mental retardation. Neurological examination revealed axial hypotonia, mild ataxia and pyramidal signs. [ncbi.nlm.nih.gov]

[…] and leukodystrophy due to compound heterozygous p.Thr508Ile and p.Ser509Leu SDHA mutations, while the second patient presented with hypotonia and leukodystrophy with elevated brain succinate demonstrated by MR spectroscopy due to a novel, homozygous [archive.org]

One girl, patient 1, who presented at birth with hypotonia and feeding difficulties, and died at 5 weeks of age. [gu.se]

• Plethora

  Abstract Mitochondrial complex I deficiency results in a plethora of often severe clinical phenotypes manifesting in early childhood. [ncbi.nlm.nih.gov]

  Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences Organization: Paediatrics Laboratory Medicine Neurology Human Genetics Journal title: American Journal of Human Genetics Abstract: Mitochondrial complex I deficiency results in a plethora [repository.ubn.ru.nl]

• Mild Clinical Course

  Immunoblot analysis showed that COX14 was undetectable in COA3 subject fibroblasts, and that COA3 was undetectable in fibroblasts from a COX14 subject, demonstrating the interdependence of these two COX assembly factors.CONCLUSIONS: The mild clinical [forskning.ku.dk]

  Two sisters, patients 2 and 3, who presented at 6-7 months of age with progressive muscle weakness and delayed motor development, and have since showed a mild clinical course with long life span and normal mental development. [gu.se]

• Photosensitivity

  Neurogastrointestinal Encephalomyopathy 221 Leigh Syndrome and Mitochondrial Leukoencephalopathies 224 Pyruvate Carboxylase Deficiency 245 Multiple Carboxylase Deficiency 248 Cerebrotendinous Xanthomatosis 252 Cockayne Syndrome 259 Trichothiodystrophy with Photosensitivity [books.google.com]

• Normal Stature

  RESULTS Clinical features Patient 1 Patient 1 was of normal intelligence (Wechsler test of adult reading: thirty-seventh percentile), normal stature (1.7 m) and body habitus (68.7 kg). She had no ptosis and eye movements were normal. [clinsci.org]

• Flexion Contracture

  By the age of 4 years, she could stand briefly with support although remains wheelchair-dependent, having developed flexion contractures in both her arms and legs. [jmg.bmj.com]

• Unilateral Ptosis

  He had subtle unilateral ptosis and eye movements were normal. [clinsci.org]

Diagnostic Approach to the Moribund Patient If a patient with CM of unknown cause presents in a moribund state and time does not permit a directed workup, it is imperative to collect certain samples and to perform studies that subsequently may establish [circ.ahajournals.org]

• Albuminuria

  Research output : Contribution to journal › Article › Research › peer-review Chronic kidney cortical damage is associated with baseline kidney function and albuminuria in patients managed with radical nephrectomy for kidney tumours Ellis, R. [monash.edu]

Currently, no cure or mitigative treatment is available for these diseases. To aid the future design of rational treatment strategies, insight into the pathophysiology of CI mutations is required. [eurekaselect.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

It maintains a clinical focus while providing state-of-the-art diagnosis and treatment techniques. [books.google.com]

In some cases, treatment with riboflavin may have clinical benefit (summary by {10:Jain-Ghai et al., 2013}). [diseaseinfosearch.org]

The prognosis for MELAS is poor. Typically, the age of death is between 10 to 35 years, although some patients may live longer. [umdf.org]

The pathophysiology of heart failure sometimes cannot be easily explained, and it is important to diagnose the condition appropriately to improve patient prognosis. 1. Hannon MJ, O'Halloran DJ. [heartviews.org]

[…] thiamine, biotin, co-enzyme Q10, carnitine, and a ketogenic diet (a special high-fat, low-carbohydrate diet). 0002376 Dyskinesia 0100660 Exercise intolerance 0003546 Failure to thrive Faltering weight Weight faltering Therefore, the long-term outlook ( prognosis [rarediseases.info.nih.gov]

Multiple deletion Ataxia, Hypogonadism & Choroidal dystrophy: Multiple deletion Isolated Complex I deficit: Nuclear mutations 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]

However, some cases do demonstrate involvement of the anterior putamen, dorsal mesencephalon, and dorsal pons. 36, 68 The etiology of the heterogeneity of MRI findings within and between specific genetic etiologies is not clear. [dovepress.com]

Causes of Vitamin B 12 Deficiency States Once vitamin B 12 deficiency is confirmed, a search for the etiology should be initiated. [aafp.org]

[2] followed 176 patients with secondary adrenal failure who had an unspecified etiology, and they found that 26% of the patients, in whom immunological examinations could be performed, displayed primary hypothyroidism, and the antithyroid peroxidase [heartviews.org]

A reduction in the morbidity and mortality associated with CM will require a better understanding of its causes and pathogenesis so that etiology-specific therapies can be implemented. [circ.ahajournals.org]

Relevant External Links for NDUFB3 Genetic Association Database (GAD) NDUFB3 Human Genome Epidemiology (HuGE) Navigator NDUFB3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: NDUFB3 No data available for Genatlas for NDUFB3 Gene Identification [genecards.org]

1 Jan 2019, In : Epidemiology (Cambridge, Mass.). 30, 1, p. 38-47 10 p. [monash.edu]

Epidemiology of adrenal crisis in chronic adrenal insufficiency: The need for new prevention strategies. Eur J Endocrinol 2010;162:597-602. 7. Kajiya T, Kuroda A, Hokonohara D, Tei C. [heartviews.org]

The incidence is unknown, although the epidemiological studies of the MELAS-3243 mtDNA mutation have estimated the prevalence to be 1-16/100,000 in the adult population. There is no cure or specific treatment for MELAS. [umdf.org]

To aid the future design of rational treatment strategies, insight into the pathophysiology of CI mutations is required. [eurekaselect.com]

The pathophysiology of heart failure sometimes cannot be easily explained, and it is important to diagnose the condition appropriately to improve patient prognosis. 1. Hannon MJ, O'Halloran DJ. [heartviews.org]

Implications and future directions The data described here suggest that the branch-site mutation is involved in the pathophysiology of complex I deficiency. [dmm.biologists.org]

This wide range of components of mitochondrial pathophysiology produces a spectrum of disease. [dovepress.com]

Epidemiology of adrenal crisis in chronic adrenal insufficiency: The need for new prevention strategies. Eur J Endocrinol 2010;162:597-602. 7. Kajiya T, Kuroda A, Hokonohara D, Tei C. [heartviews.org]

In support of this hypothesis, Shidara et al. showed that pathogenic mutations in the mitochondrial ATP6 gene contribute to promotion of cancer by prevention of apoptosis ( 38 ). [clincancerres.aacrjournals.org]

Surprisingly, trace amounts of complex I, as present in ndufs4, are sufficient to prevent this metabolic response. [plantphysiol.org]

He has suffered single epileptic seizures but has no preventive treatment. The cognitive function is tested to be within normal range. His fine motor skills and language function are good, and he is attending ordinary school with some facilitation. [ojrd.biomedcentral.com]

Similar to folic acid deficiency, vitamin B 12 deficiency produces hyperhomocys-teinemia, which is an independent risk factor for atherosclerotic disease. 7 Although the role of folic acid supplementation in reducing homocysteine levels as a method for preventing [aafp.org]