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178 Possible Causes for Creatine Kinase Normal or Increased, Deficiency of Alpha-1,4-Glucosidase aka Acid Maltase, Vacuolization

Did you mean: Creatine Kinase Normal or Increased, Deficiency, of Alpha-1, 4-Glucosidase aka, Acid, Maltase, Vacuolization

  • Glycogen Storage Disease Type 2

    At juvenile onset, a more moderate vacuolization without significant differences in overall morphology is notable.[] Laboratory results are significant for an elevated creatine kinase level of 1,423 U/L (normal 200 U/L). There was no increase of lactate on forearm nonischemic testing.[] Glycogenosis type 2 aka/or Pompe disease aka/or Acid maltase deficiency aka/or Alpha-1, 4-Glucosidase deficiency aka/or Glycogen storage disease type 2 may cause or feature[] Deficiency, Alpha-Glucosidase Deficiencies, Deficiency of Alpha Glucosidase, 4 Glucosidase Deficiency Alpha 1, Alpha-1-4-Glucosidase Deficiency, 4-Glucosidase Deficiencies[]

  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[] The degree of dysphagia presented by the patient is an important prognostic factor of the disease, as these patients progress to malnutrition. 6 The curative treatment of[] Aspiration pneumonia and malnutrition are the leading cause of death in patients with OPMD, but do not shorten life expectancy because these tend to occur late in the disease[] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[]

    Missing: 4-Glucosidase aka Acid Maltase
  • Distal Myopathy Type 3

    Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[] Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold.[] deficiency, alpha1, 4–glucosidase acid deficiency, glycogenosis due to acid maltase deficiency, glycogenosis type 2, acid alphaglucosidase (GAA) deficiency, GAA deficiency[] Table 2 Differential diagnosis of distal myopathies CREATINE KINASE The serum creatine kinase concentration may be helpful if it is increased but it may be normal or only[]

    Missing: 4-Glucosidase aka Acid Maltase
  • Inclusion Body Myositis

    The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.[] Labs including CBC, CMP, ANA, ESR, CRP, and TSH were normal. Serum creatine kinase was 6,500.[] Death in IBM is sometimes related to malnutrition and respiratory failure. There is no effective treatment for the disease.[] Death in IBM is related to malnutrition, cachexia, aspiration, and respiratory failure ( 1 – 7 ).[]

    Missing: 4-Glucosidase aka Acid Maltase
  • Sarcotubular Myopathy

    The vacuoles are similar to those described in sarcotubular myopathy. TRIM32 sequencing revealed the common c.1459G A mutation at homozygosity.[] Asymptomatic individuals may also present with a high creatine kinase (CK) level or malignant hyperthermia.[] Malnutrition 3. Chronic renal disease 4. Amyloidosis 5. Malignant hyperthermia 6. Myoadenylate deaminase deficiency Periodic paralysis 1. Hypokalemic 2. Hyperkalemic 3.[] Myriad small spaces appeared in abnormal fibers in the transverse sections, while in longitudinal sections the vacuolation was segmental in distribution.[]

    Missing: 4-Glucosidase aka Acid Maltase
  • Limb-Girdle Muscular Dystrophy

    […] pathology Vacuoles/ultrastructure Substances Chromatin LMNA protein, human Lamin Type A MyoD Protein MyoD1 myogenic differentiation protein PAX7 Transcription Factor PAX7[] Patients with congenital and mitochondrial myopathies usually present normal creatine kinase levels, and frequent ptosis.[] 2, GSD type 2, acid maltase deficiency, alpha-1, 4-glucosidase acid deficiency, glycogenosis due to acid maltase deficiency, glycogenosis type 2, acid alphaglucosidase (GAA[] Our case suggests that posterior-dominant lower limb muscle impairment with gluteus and truncal muscle involvement and the detection of rimmed vacuoles on a muscle biopsy[]

    Missing: 4-Glucosidase aka Acid Maltase
  • Alcoholic Liver Disease

    Fatty liver, also known as fatty liver disease (FLD) or hepatic steatosis, is a reversible condition wherein large vacuoles of triglyceride fat accumulate in liver cells via[] The adverse events observed in the SAMe group encompassed nausea (three patients), diarrhoea, and pyrosis.[] Malnutrition is recognized as the most frequent complication in ALD, and despite the high clinical significance, there are no effective therapies to reverse malnutrition in[] These may include steatosis (fatty change), lobular inflammation, periportal fibrosis, Mallory bodies, nuclear vacuolation, bile ductal proliferation, and fibrosis or cirrhosis[]

    Missing: Creatine Kinase Normal or Increased
  • Limb-Girdle Muscular Dystrophy Type 1E

    Pathologic findings in one of the patients showed rimmed vacuoles.[] kinase normal-to-moderate increase Genetic testing gold standard Slit-lamp examination to evaluate for cataracts classically posterior subcapsular cataracts Electrocardiogram[] Hayashi YK, Ogawa M, Tagawa K, et al. (2001) Selective deficiency of alpha‐dystroglycan in Fukuyama‐type congenital muscular dystrophy. Neurology 57 (1): 115–121.[] Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions. {ECO:0000269 PubMed:23667635}.[]

    Missing: 4-Glucosidase aka Acid Maltase
  • Limb-Girdle Muscular Dystrophy Type 1G

    […] membrane in the vacuoles.[] Hayashi YK, Ogawa M, Tagawa K, et al. (2001) Selective deficiency of alpha‐dystroglycan in Fukuyama‐type congenital muscular dystrophy. Neurology 57 (1): 115–121.[] -1 antiproteinase, antitrypsin, member 1) (eg, alpha-1-antitrypsin deficiency), gene analysis, common variants (eg, *S and *Z) 81361 - 81364 HBB (hemoglobin, subunit beta)[] Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles.[]

    Missing: 4-Glucosidase aka Acid Maltase
  • Polyglucosan Body Myopathy Type 2

    ; DMRV; Nonaka myopathy; Rimmed vacuole myopathy; Quadriceps Sparing Myopathy; GNE myopathy "OMIM Entry # 605820 - Nonaka Myopathy" .[] normal.  Elevated levels of serum creatine kinase (CK) and aldolase suggest muscle involvement, but normal values do not exclude the future development of myopathy. 22.[] […] thalassemia X-linked intellectual disability syndrome alpha-1 antitrypsin deficiency alpha-1 protease inhibitor deficiency, see alpha-1 antitrypsin deficiency alpha-1 related[] […] connective tissue Storage material PAS Glycogen ; Carbohydrate Alcian blue Mucopolysaccharide Sudan black B Lipid Oil red O Lipid Other Congo red Amyloid ; Inflammation; Vacuoles[]

    Missing: 4-Glucosidase aka Acid Maltase

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