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75 Possible Causes for Autonomic Neuropathy, Urine Organic Acids Abnormal

  • Hemiplegia

    organic acids, which is indicative of certain metabolic disorders; studies of cerebrospinal fluid (CSF), which can exclude neurotransmitter deficiency disorders with similar[rarediseases.org] […] episodic oculomotor abnormalities; erythrocyte sedimentation rates, which measures how long it takes red blood cells to settle in a test tube over a given period to detect[rarediseases.org] […] tests may include electroencephalogram (EEG), which measures electrical responses in the brain, and is typically used to identify epilepsy; metabolic screening to detect urine[rarediseases.org]

  • Distal Myopathy Type 3

    , urine organic acids.[sites.google.com] […] type 5 Hereditary motor and sensory neuropathy type 6 Hereditary sensory and autonomic neuropathy type 2 Hutchinson-Gilford progeria syndrome Hyperinsulinism due to HNF1A[csbg.cnb.csic.es] […] sensory and autonomic neuropathy type IV (HSAN IV) [8], is a condition associated with insensitivity to pain with anhidrosis.[explainmedicine.com]

  • Biotin-Responsive Basal Ganglia Disease

    Copyright 2013 Mosby Inc.All rights reserved. tandem mass spectrometry, urine for organic acids,and levels of lactic acid, ammonia, acylcarnitines, copper, ce-ruloplasmin,[docslide.com.br] neuropathy type 1 Hereditary xanthinuria Histidinemia Holocarboxylase synthetase deficiency Homocarnosinosis Homocystinuria due to methylene tetrahydrofolate reductase deficiency[se-atlas.de] […] for amino acids, urine for organic acids, liver enzymes, coagulation profile, lipid profile and cerebrospinal fluid for cell counts, protein, glucose and culture.[ojrd.biomedcentral.com]

  • Congenital Myopathy with Excess of Thin Filaments

    , urine organic acids.[sites.google.com] neuropathy with spastic paraplegia Becker muscular dystrophy Duchenne muscular dystrophy Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers[csbg.cnb.csic.es] […] serum lactate:pyruvate ratio, forearm exercise test, total carnitine profile, serum acylcarnitine profile (interictal) and if possible (ictal), plasma amino-acids, uric acid[sites.google.com]

  • Chronic Diarrhea with Villous Atrophy

    Of note, rheumatoid factor, anti-nuclear antibody, Human Immunodeficiency Virus (HIV) status, vitamin B12, folate, ferritin level and urine organic acids were all normal.[bmcpediatr.biomedcentral.com] Diabetic complications before transplant included retinopathy, nephropathy, mild autonomic neuropathy, and gastroparesis.[cjasn.asnjournals.org] Patients with autonomic diabetic neuropathy or hyperthyroidism may have altered intestinal motility leading to diarrhea.[ocw.tufts.edu]

  • High Myopia-Sensorineural Deafness Syndrome

    Neurometabolic tests Consider if globally developmentally delayed or neurologically abnormal Urine MPS, amino acids, organic acids, pyruvate/lactate, ammonia, CSF lactate[starship.org.nz] Primary Sidebar Congenital and Genetic Diseases Norrie disease Spinocerebellar ataxia 8 Supernumerary nipple Hereditary sensory and autonomic neuropathy type 7 Ehlers-Danlos[checkrare.com] neuropathy type 2 Ring chromosome 12 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis Isobutyryl-CoA dehydrogenase deficiency Charcot-Marie-Tooth disease[checkrare.com]

  • Left Ventricular Noncompaction

    The latter is characterized by the presence of skeletal myopathy, delayed growth, neutropenia, lactic acidosis, abnormal cholesterol metabolism, increased levels of organic[dx.doi.org] Nervensystem (Autonome Neuropathie)]] [[Autonomes Nervensystem (Dysautonomie)]] [[Autonomes Nervensystem (Reflexe verschiedene)]] [[Autonomes Nervensystem (Vagotomie)]] [[kidney.de] acids in the urine, decreased concentration of carnitine and mitochondrial anomalies. 21 There are cases of isolated NCM associated with the presence of Melnick-Needles Syndrome[dx.doi.org]

  • Secondary Myopathy

    The abnormal organic acid in each case is determined by analysis of blood and urine; identification of the specific enzyme deficiency requires tissue analysis ( 71, 72 ).[annalsofneurosciences.org] Autonomic involvement Restrictive cardiomyopathy Inherited Myopathies Duchenne muscular dystrophy 1 in 3500 male births Age of onset Symmetrical proximal girdle weakness[clevelandclinicmeded.com] , urine organic acids.[sites.google.com]

  • Polyglucosan Body Myopathy Type 2

    The abnormal organic acid in each case is determined by analysis of blood and urine; identification of the specific enzyme deficiency requires tissue analysis ( 71, 72 ).[annalsofneurosciences.org] Panel by Next-Generation Sequencing (NGS) (43 genes) -HMNP / Hereditary Motor Neuropathy Panel by Next-Generation Sequencing (NGS) (20 genes) -HSNP / Hereditary Sensory/Autonomic[mayomedicallaboratories.com] , urine organic acids.[sites.google.com]

  • Arrhythmogenic Right Ventricular Dysplasia

    abnormal urine and serum organic acids High lactate Organic (propionic, methylmalonic) acidemias, or b-ketothiolase deficiency Glycogen storage disease, Bath and Sengers[transplantbuddies.org] Hereditary Sensory and Autonomic Neuropathy Type II Ingo Kurth. Initial Posting: November 23, 2010; Last Update: February 19, 2015.[ncbi.nlm.nih.gov] Orthostatic hypotension (postural hypotension) - syncope occurs after standing up: Autonomic failure: Multiple system atrophy, Parkinson's disease, diabetic neuropathy, amyloidosis[patient.info]

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