Presentation
He has been the Editor in Chief, JAMA Neurology (1997- present) and a member of the Editorial Board of JAMA (1997-present). [books.google.com]
Acronym COXPD15 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]
In this case, the main clinical issue of the patient was encephalopathy presented as central apnea, intractable epilepsy, and neurodevelopmental delay. [e-cep.org]
The first subgroup, with neonatal presentation, is characterized by cardiomyopathy and is frequently fatal in early life. The second subgroup presents in infancy, with hypoketosis and hypoglycaemia, and frequently mimics Reye-Syndrome [ 111, 112 ]. [bioscirep.org]
Feichtinger et al. (12) have also presented the functional studies muscular enzymology research. [frontiersin.org]
Gastrointestinal
- Failure to Thrive
You can manage this and all other alerts in My Account The alert will be sent to: × Top Mitochondrial dysfunction is being diagnosed increasingly in children and adults who have hypotonia, seizures, stroke, failure to thrive, renal and hepatic dysfunction [anesthesiology.pubs.asahq.org]
Smeitink Original Paper First Online: 07 September 2006 313 Downloads 37 Citations Abstract Failure to thrive, feeding difficulties, variable forms of infantile epilepsy or psychomotor developmental delay and hypotonia were the most frequent clinical [link.springer.com]
Similar to other described cases, our patient presented with early-onset failure to thrive, as well as encephalopathy and elevated blood lactate (Table 1 ). [frontiersin.org]
Psychiatrical
- Psychomotor Retardation
psychomotor retardation, muscular hypotonia Alive at 13 years, death at 4.9 years Akawi et al.6) (2016) Pakistani (5) Homozygous c.1423+2 T>A, splicing site mutation Intellectual disability, mild septal hypertrophy Alive at 2.5–19 years Shinwari et [e-cep.org]
Neurologic
- Global Developmental Delay
Clinical features include mild global developmental delay, white matter abnormalities, ataxia, incoordination, speech and reading difficulties, T2-weighted hyperintensities in the basal ganglia, corpus callosum, and brainstem. [uniprot.org]
A global developmental delay seemed obvious, because she rarely showed spontaneous eye opening and movement of limbs, and did not show appropriate responses such as avoidance or crying to external stimuli. She also had muscle hypotonia. [e-cep.org]
- Steppage Gait
According to medical records, neurologic examinations revealed bilateral optic atrophy, exotropia, weakness in both tibialis anterior muscles, steppage gait, and hyperreflexia at patellar reflex. [ng.neurology.org]
Workup
It led to a fast diagnosis in 30% of critically ill children for whom the routine clinical workup was unsuccessful. Accepted July 10, 2017. [pediatrics.aappublications.org]
Here we describe the clinical features and diagnostic workup of an infant who presented with an early onset severe encephalopathy resulting from combined deficiencies of OXPHOS due to recessive mutations (including one novel variant) in a nuclear gene [frontiersin.org]
Treatment
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]
Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici Springer, 08.07.2014 - 867 Seiten This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases [books.google.de]
Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici Springer, ٠٨/٠٧/٢٠١٤ - 867 من الصفحات This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic [books.google.com]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]
Often it requires no treatment or can be relieved by such simple measures as eating dry crackers and tea before rising. [medical-dictionary.thefreedictionary.com]
Prognosis
PMID: 17594932 Prognosis Mendham AE, Goedecke JH, Zeng Y, Larsen S, George C, Hauksson J, Fortuin-de Smidt MC, Chibalin AV, Olsson T, Chorell E Diabetologia 2021 Jul;64(7):1642-1659. Epub 2021 Mar 26 doi: 10.1007/s00125-021-05430-6. [ncbi.nlm.nih.gov]
[…] 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]
Although the previously reported cases consisted of early onset, rapidly progressive and ultimately fatal diseases, the patient described here seems to show a more benign phenotype, though the pathophysiology and prognosis remain unclear. [frontiersin.org]
Affected patients show various clinical symptoms and prognosis, depending on the genotype. [e-cep.org]
Several patients with the COXPD7 phenotype and a short C12orf65 protein experienced respiratory failure in the first or second decade of life. 1 In comparison, our patient's respiratory ability was well preserved, and the prognosis was relatively good [ng.neurology.org]
Etiology
Etiology O'Byrne JJ, Tarailo-Graovac M, Ghani A, Champion M, Deshpande C, Dursun A, Ozgul RK, Freisinger P, Garber I, Haack TB, Horvath R, Barić I, Husain RA, Kluijtmans LAJ, Kotzaeridou U, Morris AA, Ross CJ, Santra S, Smeitink J, Tarnopolsky M, Wortmann [ncbi.nlm.nih.gov]
Specific causes of lactic acidosis Traditionally, lactic acidosis has been divided into two broad etiological categories; Type A and Type B. [acutecaretesting.org]
Many tissues and organs are affected in metabolic diseases, often severally, and understanding the etiology of some of these more atypical symptoms challenges existing paradigms in diagnosis. [centogene.com]
Epidemiology
Relevant External Links for AARS2 Genetic Association Database (GAD) AARS2 Human Genome Epidemiology (HuGE) Navigator AARS2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: AARS2 No data available for Genatlas for AARS2 Gene Exome sequencing [genecards.org]
Accession codes Accessions GenBank/EMBL/DDBJ References Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF : The epidemiology of mitochondrial disorders—past, present and future. Biochim Biophys Acta 2004; 1659: 115–120. [nature.com]
Data from combined studies has involved >2,000,000 samples from routine analyses and international screening programs of roughly 7,000 patients diagnosed with different LSDs demonstrates our expertise in these diseases including precise epidemiological [centogene.com]
Pathophysiology
Although the previously reported cases consisted of early onset, rapidly progressive and ultimately fatal diseases, the patient described here seems to show a more benign phenotype, though the pathophysiology and prognosis remain unclear. [frontiersin.org]
Prevention
This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.com]
Vitamin K and the prevention of fractures: systematic review and meta-analysis of randomized controlled trials. Arch Intern Med. 2006;166(12):1256-1261. (PubMed) 63. Tamura T, Morgan SL, Takimoto H. Vitamin K and the prevention of fractures. [lpi.oregonstate.edu]
Indigestion and heartburn are best prevented by avoiding foods that are difficult to digest, such as cucumbers, cabbage, cauliflower, spinach, onions, and rich foods. [medical-dictionary.thefreedictionary.com]
リフィーディング症候群 Refeeding syndrome: what it is, and how to prevent and treat it Hisham M Mehanna, Jamil Moledina and Jane Travis BMJ 2008;336;1495-1498 疫学 リフィーディング症候群の最大のポイントは低リン血症である。しかし、本病態は複雑であり、体液量や、Na、糖、蛋白、脂肪、チアミン(B1)、K(低K)、Mg(低Mg)にも問題が及ぶ。 [qq8oji.tokyo-med.ac.jp]
[…] consumption (oxidation) will: be increased in active muscle, decreased in inactive muscle, be very low if the ATP synthase is inhibited, but increase when an uncoupler is added, decrease if mitochondrial ADP is depleted, decrease when cyanide is used to prevent [quizlet.com]