No activity of beta-ureidopropionase could be detected in a liver biopsy of the patient, while a normal activity of dihydropyrimidine dehydrogenase and dihydropyrimidinase was present. [eurekamag.com]

The clinical, neurophysiological and neuroradiological work-up as well as the results of a specific treatment trial are presented of the first patient diagnosed with beta-ureidopropionase deficiency (E.C. 3.5.1.6, McKusick 606673). [ncbi.nlm.nih.gov]

• Epilepsy

  Medical Term Other Names Description Seizures Epilepsy Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance [rarediseases.oscar.ncsu.edu]

  Pyridoxal Phosphate-Responsive Epilepsy Pyridoxal phosphate-responsive epilepsy is caused by pyridox(am)ine phosphate oxidase deficiency. [frontiersin.org]

  & Ohtsuka, Y., Apr 2013, In : Epilepsy & behavior : E&B. 27, 1, p. 238-242 5 p. [okayama.pure.elsevier.com]

  Alpha-N-acetylgalactosaminidase deficiency type 1 Alpha-N-acetylgalactosaminidase deficiency type 2 Alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-mannosidosis Alpha-mannosidosis, adult form Alpha-mannosidosis, infantile form Amish infantile epilepsy [se-atlas.de]

  ASD DD, ID Recent Recommendation Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. [autism.mindspec.org]

• Gaucher Disease

  disease, infantile Sandhoff disease, juvenile Tay-Sachs disease Tay-Sachs disease, B variant, adult Tay-Sachs disease, B variant, infantile Tay-Sachs disease, B variant, juvenile Tay-Sachs disease, B1 variant Gaucher disease Fetal Gaucher disease Gaucher [repository.innermed.eu]

  Gaucher Disease Gaucher disease is caused by the deficiency of the lysosomal enzyme glucocerebrosidase (glucosylceramidase). It is an autosomal recessive disease with a prevalence ranging from 1:50,000 to 1:100,000. [frontiersin.org]

  disease type 2 Gaucher disease type 3 Glutaryl-CoA dehydrogenase deficiency Glycine encephalopathy Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Guanidinoacetate methyltransferase deficiency HSD10 disease HSD10 disease [se-atlas.de]

  Epileptic Encephalopathy, Early Infantile, 17 Epileptic Encephalopathy, Early Infantile, 7 Episodic Ataxia, Type 2 Episodic Kinesigenic Dyskinesia 2 Filippi Syndrome Friedreich Ataxia Frontotemporal Dementia, Chromosome 3-Linked Galloway-Mowat Syndrome Gaucher [familydiagnosis.com]

  Fabry Disease Gaucher Disease Globoid Cell Leukodystrophy Krabbe Disease Metachromatic Leukodystrophy (MLD) Sphingolipid Metabolism ( show more show less ) PW_C000018 HMDB0000026: View Metabocard Ureidopropionic acid Ureidopropionic acid is an intermediate [smpdb.ca]

• Weakness

  Biotinidase deficiency Seizures, weak muscle tone (hypotonia), breathing problems, and developmental delays. [metascreen.vn]

  L-Histidine, with a pKa of 6.1 is a relatively weak buffer over the physiological intramuscular pH range, however, when bound to other amino acids, this increases nearer to 6. 8-7.0. [wikivisually.com]

  […] inhibitory promiscuity Low CYP Inhibitory Promiscuity 0.9847 Ames test Non AMES toxic 0.8267 Carcinogenicity Non-carcinogens 0.7603 Biodegradation Ready biodegradable 0.9607 Rat acute toxicity 1.1302 LD50, mol/kg Not applicable hERG inhibition (predictor I) Weak [drugbank.ca]

  In infants with acidosis, the initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). [smpdb.ca]

  Beam monitoring is carried out by means of the weak X-ray signal emitted by the exit foil and detected by a specially designed Si(Li) detector cooled by Peltier effect. [science.gov]

• Fatigue

  […] values in the fatigued state at post-HIIT + supplementation compared with fatigued state at pre-HIIT + supplementation (P = 0.03; Table 1). [journals.physiology.org]

  In this sense, nutritional supplementation seems to be a good strategy to delay fatigue [, ]. [tandfonline.com]

  PMID: 27467218 Effects of beta-alanine supplementation on performance and muscle fatigue in athletes and non-athletes of different sports: a systematic review. Berti Zanella P, Donner Alves F, Guerini de Souza C. Berti Zanella P, et al. [pubmed.ncbi.nlm.nih.gov]

  In addition, the following parameters were determined: peak force, mean force, integral of force (area under the curve), relative fatigue index (Eq 2), and absolute fatigue index (Eq 3) during swimming. (2)(3) Supplementation protocol. [journals.plos.org]

  Valinuria Vomiting, failure to thrive, intellectual disability, and fatigue. Hyperleucine-isoleucinuria Seizures, failure to thrive, and intellectual disability. [metascreen.vn]

• Hemophilia A

  A in female carriers Symptomatic form of hemophilia B in female carriers Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Synaptic congenital myasthenic syndromes Syncopal paroxysmal tachycardia Syncopal tachyarythmia [csbg.cnb.csic.es]

  Klippel-Trenaunay-Weber syndrome Sturge-Weber syndrome Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis Hematologic diseases Thalassemia ATR-X syndrome Sickle cell anemia Hereditary spherocytosis Hereditary elliptocytosis Hereditary stomatocytosis Hemophilia [csirnotes.com]

• Skin Disease

  (PM/DM) Polymyalgia rheumatica Fibromyalgia Eosinophilic fasciitis Autophagic vacuolar myopathy Isaacs syndrome Skin diseases Skin and soft tissue diseases Lipodystrophy Congenital generalized lipodystrophy (CGL) Familial partial lipodystrophy Acquired [csirnotes.com]

• Myopathy

  Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Myopathy and diabetes mellitus Pure mitochondrial myopathy MELAS syndrome MERRF syndrome NARP syndrome Periodic paralysis with later-onset distal motor neuropathy Mitochondrial oxidative [repository.innermed.eu]

  (MFM) Nonaka distal myopathy (NM) McLeod syndrome Scapuloperoneal myopathy (SPM) Reducing body myopathy (RBM) X-linked myopathy with postural muscle atrophy (XMPMA) Congenital myopathy Nemaline myopathy Central core disease Multi-minicore disease (MmD [csirnotes.com]

  […] proteins Acyl-CoA dehydrogenase deficiency Adrenomyeloneuropathy Adult Krabbe disease Adult neuronal ceroid lipofuscinosis Adult-onset autosomal recessive sideroblastic anemia Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy [se-atlas.de]

  […] type 1 Distal myopathy with anterior tibial onset Distal myopathy with posterior leg and anterior hand involvement Distal myopathy with rimmed vacuoles Distal myopathy with vocal cord weakness Distal myopathy, Markesbery-Griggs type Distal myopathy, [csbg.cnb.csic.es]

  With Lactic Acidosis Mohr-Tranebjaerg Syndrome Mucolipidosis IV Muscular Dystrophy, Limb-Girdle, Type 2S Myopathy With Extrapyramidal Signs Neurodegeneration With Brain Iron Accumulation Neurodegeneration With Brain Iron Accumulation 2B Neurodegeneration [familydiagnosis.com]

• Muscle Spasticity

  Hartnup syndrome Increased sensitivity of the skin to sunlight, difficulty with balance and coordination (ataxia), abnormal tensing of the muscles (spasticity), delayed motor development, trembling, headaches, weak muscle tone (hypotonia), anxiety, emotional [metascreen.vn]

• Seizure

  Seizures-intellectual deficit due to hydroxylysinuria Seizures, and intellectual disability. Cystathioninuria Intellectual disability. Hyperprolinuria type I Seizures, intellectual disability, and other neurological or psychiatric problems. [metascreen.vn]

  Different forms of seizures with variable EEG abnormalities are seen in metabolic seizures. [frontiersin.org]

  Medical Term Other Names Description Seizures Epilepsy Seizures are an intermittent abnormality of the central nervous system due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance [rarediseases.oscar.ncsu.edu]

  Less than 10 patients have been reported, and the phenotype can range from severe neurologic involvement with mental retardation and seizures to normal neurologic development ({4:Yaplito-Lee et al., 2008}). [diseaseinfosearch.org]

  […] benign familial neonatal epilepsy, see benign familial neonatal seizures benign familial neonatal seizures benign familial pemphigus, see benign chronic pemphigus benign familial polycythemia, see familial erythrocytosis benign neonatal convulsions, [herenciageneticayenfermedad.blogspot.com]

• Encephalopathy

  Ehlers-Danlos syndrome, musculocontractural type Encephalopathy due to GLUT1 deficiency Encephalopathy due to hydroxykynureninuria Encephalopathy due to prosaposin deficiency Encephalopathy due to sulfite oxidase deficiency Encephalopathy-hypertrophic [se-atlas.de]

  Due To Prosaposin Deficiency Encephalopathy, Progressive, With Or Without Lipodystrophy Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17 Epileptic Encephalopathy, [familydiagnosis.com]

  Atypical glycine encephalopathy Infantile glycine encephalopathy Neonatal glycine encephalopathy Neurometabolic disorder due to serine deficiency 3-Phosphoglycerate dehydrogenase deficiency 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile [repository.innermed.eu]

  Glycine encephalopathy is an autosomal recessive metabolic disease with an incidence of 1:60,000 (6). Glycine encephalopathy can present as severe or attenuated form. [frontiersin.org]

  Ethylmalonic encephalopathy ✓ 6. Dicarboxylic aciduria ✓ Peroxisomal Diseases 5 4 - 1. Zellweger syndrome ✓ ✓ 2. Neonatal adrenoleukodystrophy ✓ ✓ 3. Infantile refsum disease (IRD) ✓ ✓ 4. Zellweger-like syndrome (ZLS) ✓ 5. [metascreen.com.hk]

• Ataxia

  Autosomal Recessive Spastic Paraplegia, Ataxia, And Mental Retardation Spinocerebellar Ataxia 17 Spinocerebellar Ataxia 28 Spinocerebellar Ataxia, Autosomal Recessive 1 Spinocerebellar Ataxia Type 11 Spinocerebellar Ataxia Type 3 Striatonigral Degeneration [familydiagnosis.com]

  Disorder of amino acid and other organic acid metabolism Disorder of amino acid absorption and transport Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome Autosomal recessive congenital cerebellar ataxia due to [repository.innermed.eu]

  Intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). [metascreen.vn]

  […] with vitamin E deficiency Ataxia-oculomotor apraxia type 1 Atypical glycine encephalopathy Atypical pantothenate kinase-associated neurodegeneration Autism spectrum disorder-epilepsy-arthrogryposis syndrome Autosomal dominant dopa-responsive dystonia [se-atlas.de]

  ataxia type 29 Spinocerebellar ataxia type 31 Spinocerebellar ataxia type 35 Spinocerebellar ataxia type 36 Spinocerebellar ataxia type 4 Spinocerebellar ataxia type 5 Spinocerebellar ataxia type 6 Spinocerebellar ataxia type 7 Spinocerebellar ataxia [csbg.cnb.csic.es]

• Dystonia

  Read more about the causes of dystonia. Dystonia with no obvious cause, or caused by a genetic mutation, is known as primary dystonia. If dystonia is a symptom of another condition, it's known as secondary dystonia. [familydiagnosis.com]

  Ataxia with vitamin E deficiency Ataxia-oculomotor apraxia type 1 Atypical glycine encephalopathy Atypical pantothenate kinase-associated neurodegeneration Autism spectrum disorder-epilepsy-arthrogryposis syndrome Autosomal dominant dopa-responsive dystonia [se-atlas.de]

  Autosomal recessive dopa-responsive dystonia # Dopa responsive dystonia due to sepiapterin reductase deficiency Hyperphenylalaninemia 6-pyruvoyl-tetrahydropterin synthase deficiency Dehydratase deficiency Dihydropteridine reductase deficiency GTP cyclohydrolase [repository.innermed.eu]

  [HPO:curators] Show HP:0001332 Dystonia "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [manteia.igbmc.fr]

  12 Dystonia 16 Dystonia 18 Dystonia musculorum deformans Dystonia-parkinsonism, Paisan-Ruiz type Dystrophic epidermolysis bullosa inversa Dystrophic epidermolysis bullosa pruriginosa Dystrophic epidermolysis bullosa, nails only DYT1 DYT11 DYT12 DYT16 [csbg.cnb.csic.es]

• Tremor

  see essential tremor benign familial neonatal convulsions, see benign familial neonatal seizures benign familial neonatal epilepsy, see benign familial neonatal seizures benign familial neonatal seizures benign familial pemphigus, see benign chronic [herenciageneticayenfermedad.blogspot.com]

  See also electroencephalography. beta-carboline indoleamine alkaloid poisoning causes a nervous syndrome of hyper- or hypomotility, muscle tremor, flexed paresis of fore- or hindlimbs, hypermetria, walking backwards, convulsions. [medical-dictionary.thefreedictionary.com]

  Argininuria Stiffness, especially in the legs, caused by abnormal tensing of the muscles (spasticity), developmental delays, intellectual disability, seizures, tremor, and difficulty with balance and coordination (ataxia). [metascreen.vn]

  […] cerebral folate transport deficiency Choreoacanthocytosis Guillain-Barre syndrome Subacute myelo-optico-neuropathy (SMON) Multiple system atrophy Spinocerebellar Degeneration Postherpetic neuralgia Subacute sclerosing panencephalitis (SSPE) Fragile X tremor [csirnotes.com]

  Symptoms of vomiting, confusion, tremors and loss of consciousness stopped at day 5. [garrodsymposium.com]

Over the past 4 years we prospectively tested > 80 DUS specimens for C5DC, GA and 3HGA as part of the diagnostic workup for GA1. [garrodsymposium.com]

A second tier of biochemical testing should be ordered based on clinical suspicion made from the presentation and the initial workup. Such tests include plasma amino acids and acylcarnitine profile, and urine organic acids. [frontiersin.org]

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]

The clinical, neurophysiological and neuroradiological work-up as well as the results of a specific treatment trial are presented of the first patient diagnosed with beta-ureidopropionase deficiency (E.C. 3.5.1.6, McKusick 606673). [ncbi.nlm.nih.gov]

These stimulatory activities on the CNS were the rationale for therapeutic use of TRH in the initial treatment of coma due to brain trauma and for the treatment of endogenous depression. [database.pherobase.com]

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]

and timolol, used as an ophthalmic preparation ( Timoptic ) for treatment of glaucoma and as an oral preparation ( Blocadren ) for treatment of hypertension and for prophylaxis after the acute phase of a myocardial infarction. [medical-dictionary.thefreedictionary.com]

There are hundreds of biomarkers which could be potentially used for diagnosis and prognosis in septic patients. [chemweb.com]

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol. (2015) 78:606–18. doi: 10.1002/ana.24485 PubMed Abstract | CrossRef Full Text | Google Scholar 20. [frontiersin.org]

An inability to predict prognosis precisely may lead to overtreatment of affected infants at lower risk of adverse outcomes. [garrodsymposium.com]

A serial 18FDG-PET study of a patient with SSPE who had good prognosis by combination therapy with interferon alpha and ribavirin. European Journal of Paediatric Neurology Ohya T, Morita K, Yamashita Y, Egami C, Ishii Y, Nagamitsu S, Matsuishi T. [docsplayer.net]

As for many other neurodevelopmental disorders no single etiology of ADHD has been provided, but a number of underlying theories exist. [behavioralandbrainfunctions.biomedcentral.com]

The etiology of seizures in metabolic diseases can also be due energy deficiency. [frontiersin.org]

Establishing accurate and timely diagnosis is hindered by etiologic heterogeneity and the large number of genes yet to be discovered. [garrodsymposium.com]

H-Erich Wichmann Institute of Medical Informatics, Biometry and Epidemiology, Chair of Epidemiology, Ludwig-Maximilians-Universität, Munich, Germany. H-Erich Wichmann Klinikum Grosshadern, Munich, Germany. [nature.com]

"Blood Pressure" [SH] (epidemiology AND humans) [SH] SI Secondary Source ID The SI field identifies secondary source databanks and accession numbers, e.g., GenBank, GEO, PubChem, ClinicalTrials.gov, ISRCTN. [biomedsearch.com]

The following review gives a short overview of the current epidemiology of sepsis, its pathogenesis and state-of-the-art knowledge on the use of specific biochemical, hematological and immunological parameters in its diagnostics. [chemweb.com]

Potter a. a School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa, Ottawa, ON b Newborn Screening Ontario, Children’s Hospital of Eastern Ontario (CHEO), Ottawa, ON c McGill University Health Centre, The Montreal Children [garrodsymposium.com]

Therefore, the neurotransmitters dopamine and norepinephrine have been implicated in the pathophysiology of ADHD. [behavioralandbrainfunctions.biomedcentral.com]

Physiology and pathophysiology of carnosine. Physiol Rev. 2013;93: 1803–45. pmid:24137022 View Article PubMed/NCBI Google Scholar 15. Hipkiss AR, Michaelis J, Syrris P. [journals.plos.org]

For 26 of these IEMs, a treatment is available that targets the primary underlying pathophysiology, and for the remainder (n=41), treatment exerts stabilizing/preventative effects. [garrodsymposium.com]

What is the most common preventable cause of children developmental delay? A. Nutritional problems. Mal nutrition is the most preventable yet still has a big death toll and a vast developmental issue all over the world. [medical-dictionary.thefreedictionary.com]

Clin Biochem. 2016 Nov; 49(16-17):1221-1226 2017 Emergency use of uridine triacetate for the prevention and treatment of life-threatening 5-fluorouracil and capecitabine toxicity. [association-victimes-5-fu.com]

CDC [CN] Centers for Disease Control and Prevention" [CN] DP Publication Date The date that the article was published. 2007/1/31[DP] 2001/3:2001/10[DP] 2009[DP] DTRE Date Revised The date a change was last made to a record as a result of NLM's individual [biomedsearch.com]

To prevent self-injury, all affected individuals require physical restraints. Lip guards and occasionally tooth extraction can be used to avoid self-injury through biting. [frontiersin.org]

Overall, this study provides evidence that β-alanine supplementation may be a useful dietary intervention to prevent fatigue in individuals undergoing HIIT. GRANTS F. [journals.physiology.org]