This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.[books.google.com]
Values are presented as means se of determinations on six individual plants grown for 2 weeks on plates and then for 4 weeks in soil.[plantphysiol.org]
At age 25 years she presented with progressive exertion-related dyspnoea and palpitations and was provisionally diagnosed with asthma.[clinsci.org]
Furthermore, the microarray data presented here display few of the trademark features of cell autonomous regulation.[plantcell.org]
[…] a) NADH dehydrogenase complex b) Cytochrome a-a3 oxidase c) Succinate dehydrogenase d) Cytochrome bc 1 -c reductase Q.10-A child has accidentally ingested a chemical and has presented with high fever.The chemical is known to affect ATP formation in electron[namrata.co]
70587 Infant acute respiratory distress syndrome 3.5 I * 178478 Infant botulism 0.2 BP * ORPHA Number Disease or Group of diseases Estimated prevalence/incidence (/100,000) Number of published cases or families 178478 Infant botulism 0.3 I * 1943 Infant epilepsy[azkurs.org]
ISCA2 Trichloroethylene toxicity Severe neonatal lactic acidosis with mtDNA depletion: SUCLG1 ; Multiple complex deficiencies Neonatal cardiomyopathy with lactic acidosis Portneuf spastic ataxia with leukoencephalopathy (SPAX3): MARS2 Microcephaly & Epilepsy[neuromuscular.wustl.edu]
In particular, mutations in the ND1 subunit of CI [MIM #252010] are associated with Leigh syndrome [MIM #256000]; cardiomyopathy; epilepsy; encephalopathy; mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) [MIM #54000];[clinsci.org]
The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction when considering an inherited metabolic disorder as the explanation for a patient with epilepsy.[books.google.com]
Sir Archibald Garrod, the british physician who created the field of human biochemical genetics in 1902 by his study of alkaptonuria Alkaptonuria is an autosomal recessive aminoacidopathy characterized by accumulation of homogentisic acid (alkapton) in[studyres.com]
Other symptoms—including sinus infections, poor growth, and infertility—affect other parts of the body. CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR).[studyres.com]
The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing ( dysphagia ) that leads to eatingproblems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome.[rarediseases.info.nih.gov]
The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing ( dysphagia ) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome.[rarediseases.info.nih.gov]
Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.[uniprot.org]
The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing ( dysphagia ) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome.[rarediseases.info.nih.gov]
By 28 years of age, muscle weakness and fatigue with exercise-induced headache, vomiting, cardiac palpitations and syncope were prominent and a metabolic acidosis with elevated serum lactate was detected ( Table 1 ).[clinsci.org]
The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing ( dysphagia ) that leads to eating problems. Click here to visit Genetics Home Reference and learn more about Leigh syndrome.[rarediseases.info.nih.gov]
[…] granulomatous dermatitis with arthritis 53 Cases 182095 Interstitial lung disease 5.4 I * 92050 Intestinal epithelial dysplasia 1.5 BP * 314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 16 Cases 137622 Intractable diarrhea-choanal[azkurs.org]
Signs and symptoms may begin in infancy and progress through childhood. [1] [2] Complex II deficiency has also been described in association with dilated cardiomyopathy (and heartfailure in childhood), [4] hemolytic uremic syndrome and rhabdomyolysis[rarediseases.info.nih.gov]
Google Scholar Mancini D, Walter G, Reichek N et al (1992) Contribution of skeletal muscle atrophy to exercise intolerance and altered muscle metabolism in heartfailure. Circulation 85 : 1364–1373.[link.springer.com]
Disease description A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heartfailure and arrhythmia. Patients are at risk of premature death.[uniprot.org]
It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. [1] Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotorretardation), and seizures.[rarediseases.info.nih.gov]
Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotorretardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.[uniprot.org]
There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome.[books.google.com]
It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. [1] Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotor retardation), and seizures.[rarediseases.info.nih.gov]
Isolated complex II deficiency was first inferred in 2 siblings with mental retardation, seizures, myoclonus, and ataxia ( Riggs et al 1984 ).[medlink.com]
A RARE COENZYME Q 10 DEFICIENCY Body_ID: B008004 A 4-year-old boy presented with seizures, progressive muscle weakness, and encephalopathy.[aris.gusc.lv]
- hypotonia-ophthalmologic- skeletal anomalies syndrome 4 Cases 369950 Intellectual disability-seizures- macrocephaly-obesity syndrome 7 Cases ORPHA Number Disease or Group of diseases Estimated prevalence/incidence (/100,000) Number of published cases[azkurs.org]
[…] weakness) with dementia, and Kearns–Sayre syndrome. [2] Case reports have also demonstrated that people who have only a single mutation in one of these genes may also be at risk for health problems: Having one SDHA gene mutation caused optic atrophy, ataxia[rarediseases.info.nih.gov]
Isolated complex II deficiency was first inferred in 2 siblings with mental retardation, seizures, myoclonus, and ataxia ( Riggs et al 1984 ).[medlink.com]
Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.[uniprot.org]
This condition is characterized by progressive loss of mental and movement abilities (psychomotorregression) and typically results in death within a couple of years, usually due to respiratory failure.[rarediseases.info.nih.gov]
Clinical features include psychomotorregression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy.[genecards.org]
Clinical features include psychomotorregression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy.[genecards.org]
It causes cognitive impairment, increased muscle tone, and hyperactive reflexes. [1] Inheriting two SDHD gene mutations can cause progressive loss of mental and movement abilities (psychomotor retardation), and seizures.[rarediseases.info.nih.gov]
This approach afforded a small library of bitriazolyl compounds in excellent yields with a simplified workup procedure, without requirement for tedious chromatographic purification.[pubs.rsc.org]
This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders.[books.google.com]
Google Scholar Bernsen PLJA, Gabreëls FJM, Ruitenbeek W, Hamburger HL (1993) Treatment of complex I deficiency with riboflavin. J Neurol Sci 118 : 181–187.[link.springer.com]
Treatment with coenzyme Q 10 improved the muscle weakness, but not the encephalopathy. Body_ID: PB08005 Comment.[aris.gusc.lv]
Röhn, Technology in cancer research & treatment 2018 GeneRIF : All tested genes may be recommended as universal reference genes for data normalization in gene expression studies under different treatment regimens both in primary glioblastomas and astrocytomas[papers.genomics.lbl.gov]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.[uniprot.org]
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]
Niemeijer, The Journal of clinical endocrinology and metabolism 2015 ( PubMed ) GeneRIF : This study strengthens the etiological association of SDH genes with pituitary neoplasia, renal tumorigenesis, and gastric gastrointestinal stromal tumors.[papers.genomics.lbl.gov]
[…] succinate-coenzyme Q reductase deficiency - Isolated succinate-ubiquinone reductase deficiency Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
Wang, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008 GeneRIF : Observational study of gene-disease association.[papers.genomics.lbl.gov]
It provides complete, authoritative information on the biology of the newborn and the pathophysiology and management of diseases during the neonatal period.[books.google.com]
Additional studies have involved their use in the possible prevention of, and therapy for, disease conditions.[books.google.com]
This selective effect of NO and derived species was partially prevented by superoxide dismutase and uric acid. In addition, peroxynitrite mimicked the effect of NO, including tyrosine nitration of some Complex I proteins.[biochemj.org]
Its role is to prevent the interaction of the intermediate with molecular oxygen to produce reactive oxygen species (ROS). The heme group, relative to ubiquinone, is shown in image 4.[en.wikipedia.org]
Wang, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008 GeneRIF : Observational study of gene-disease association.[papers.genomics.lbl.gov]
[…] 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]