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2,922 Possible Causes for Cognitive Defect, Muscle Hypotonia, UDP-GlcNAc Decreased

  • Immunodeficiency Type 23

    Impaired function of PGM3 is demonstrated by decreased enzyme activity, reduced UDP-GlcNAc and reduced N-linked glycosylation and O-linked glycosylation [4] PGM3 is composed[en.wikipedia.org] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia[rarediseases.info.nih.gov] Common neurological symptoms include diminished muscle tone (hypotonia), seizures, deficits in attaining developmental milestones (developmental disability), varying degrees[rarediseases.org]

  • Hyponatremia

    Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.[biodonsys.com] Some infants have diminished muscle tone (hypotonia), so that a baby appears “floppy”, attributable to elevated levels of calcium in the blood (hypercalcemia).[rarediseases.org]

    Missing: UDP-GlcNAc Decreased
  • Leigh's Disease

    An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase[ncbi.nlm.nih.gov] Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment More information about the genes responsible[rarediseases.info.nih.gov] At 14 months, his developmental milestones slowed and muscle hypotonia appeared.[ajnr.org]

    Missing: UDP-GlcNAc Decreased
  • Cannabis Abuse

    Eur Addict Res. 2018;24(1):37-42. doi: 10.1159/000487480. Epub 2018 Mar 1. Author information 1 Institut National de la Statistique et des Etudes Economiques (INSEE), Paris, France. 2 CESP, Faculté de Médecine, Université Paris Sud, Faculté de Médecine UVSQ, INSERM, Université Paris-Saclay, Villejuif, France. 3 AP-HP,[…][ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Acute Hepatic Porphyria

    Gut. 1994 Aug;35(8):1112-5. Author information 1 University Department of Medicine and Therapeutics, Western Infirmary, Glasgow. Abstract Patients with acute hepatic porphyria are denied essential operations because of concern that general anaesthesia and surgery will precipitate a life threatening porphyric crisis.[…][ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Hypercalcemia

    Hypercalcemia is a disorder that most commonly results from malignancy or primary hyperparathyroidism. [1, 2, 3, 4, 19, 20] Other, less common causes of elevated calcium include increased intake or absorption, granulomatous disease, immobilization, and thiazide diuretic use. However, the primary diagnostic approach[…][emedicine.com]

    Missing: UDP-GlcNAc Decreased
  • Accidental Hypothermia

    Zafren K 1 , Giesbrecht GG 2 , Danzl DF 3 , Brugger H 4 , Sagalyn EB 5 , Walpoth B 6 , Weiss EA 7 , Auerbach PS 7 , McIntosh SE 8 , Némethy M 8 , McDevitt M 8 , Dow J 9 , Schoene RB 10 , Rodway GW 11 , Hackett PH 12 , Bennett BL 13 , Grissom CK 14 ; Wilderness Medical Society . Author information 1 Division of[…][ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Lead Poisoning

    Lead poisoning existed and was already known in Antiquity but was forgotten, at least in the literature, until the end of the Middle Ages, where it was mentioned sporadically. In the 19th century this disease, which reached epidemic dimensions during the period of industrialization, was "rediscovered." Several[…][ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Hypoglycemia

    , hepatomegaly with microvesicular fat accumulation, elevated plasma activities of both liver and muscle enzymes, and frequently cerebral edema.[pedclerk.bsd.uchicago.edu] […] dehydrogenase deficiency) SCAD (short-chain acyl CoA dehydrogenase deficiency Presentation: severe hypoglycemia, hypoketonemia, high plasma free fatty acid concentrations, hypotonia[pedclerk.bsd.uchicago.edu]

    Missing: UDP-GlcNAc Decreased
  • Obstructive Sleep Apnea

    Other causes of OSA include: Obesity Narrow facial bone structure Retrognathia (small jaw) History of cleft palate or pharyngeal flap surgery Low muscle tone (hypotonia, as[my.clevelandclinic.org] Children with certain medical conditions are also more likely to have OSA, particularly those associated with muscle weakness, hypotonia, craniofacial abnormalities including[racgp.org.au] The accessory muscles of respiration (intercostals, sternomastoids, scalenes, abdominals) are skeletal muscles that participate in the hypotonia of all such muscles, which[clinicaladvisor.com]

    Missing: UDP-GlcNAc Decreased

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