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Congenital Disorder of Glycosylation Type 1T

CDGIT


Presentation

  • The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms.[ncbi.nlm.nih.gov]
  • Patients with either phosphorylase or phosphorylase kinase deficiencies present in early childhood with hepatomegaly and growth retardation. Hypoglycemia and hyperlipidemia are variable and, if present, usually mild.[ommbid.mhmedical.com]
  • Conclusions: The second wind phenomenon has been considered to be pathognomonic for McArdle disease, but we demonstrate that it can also be present in PGM1 deficiency.[utsouthwestern.influuent.utsystem.edu]
  • Isoform 2 has an N-terminal extension that is not present in isoform 1. Previously the focus of attention has been on the ubiqui- tously expressed isoform 1. In this thesis isoform 2, expressed only in muscle cells, was investigated.[duo.uio.no]
  • Phenotype Varies in severity depending upon age of presentation and includes three main clinical presentations: 1) severe neonatal/early-childhood onset form presenting with cardiomyopathy, hepatic disease and hypotonia with high mortality in infancy,[ojrd.biomedcentral.com]
Fatigue
  • Results: Ischemic forearm exercise resulted in no increase in lactate, an exaggerated increase in ammonia, rapid contractile fatigue and a finger flexor muscle contracture.[n.neurology.org]
  • AB - Objective: We investigated metabolism and physiological responses to exercise in an 18-year-old woman with multiple congenital abnormalities and exertional muscle fatigue, tightness, and rhabdomyolysis.[utsouthwestern.influuent.utsystem.edu]
  • […] dehydrogenase : 11p15 Differential diagnosis of exercise intolerance CPT II deficiency Most common cause of recurrent myoglobinuria Myoglobinuria occurs after moderate exercise or prolonged fasting Mitochondrial disorders Complex III, or I or IV Premature fatigue[neuromuscular.wustl.edu]
  • . • Excepting debrancher deficiency (glycogen storage type III, GSD III), defects of glycogen breakdown cause exercise intolerance with premature fatigue, cramps, and myalgia, often culminating in acute muscle breakdown with discoloration of urine (myoglobinuria[medlink.com]
  • Clinical features may include hepatomegaly, hypoglycemia, muscle cramps, exercise intolerance, and progressive fatigue and weakness. Preliminary biochemical testing may be helpful in making a diagnosis.[sjhbangorlab.testcatalog.org]
Short Stature
  • Long-term complications include gout, hepatic adenomas, osteoporosis, renal disease, and short stature. Major progress has been made in managing this disorder.[ommbid.mhmedical.com]
  • stature, hypoglycemia, muscle weakness GSD9D α subunit muscle phosphorylase kinase PHKA1 muscle nighttime muscle cramping in childhood, late-onset exercise-induced muscle fatigue and cramping GSD10 phosphoglycerate mutase PGAM2 muscle exercise-induced[themedicalbiochemistrypage.org]
  • Another patient with short stature, feeding problems and IGF3 defi-ciency showed similar biochemical abnormalities.[docslide.com.br]
Intravenous Administration
  • D-Galactose hasbeen safely used in clinical trials for FSGS in a dose of maximum 30 gdaily for a period of 4 months [20].Investigators studied oral and intravenous administration of galac-tose 0.6 g/kg in eight subjects that showed peak serum galactose[docslide.com.br]
  • Investigators studied oral and intravenous administration of galac-tose 0.6 g/kg in eight subjects that showed peak serum galactose levelsof approximately 24 mg/dl after oral administration and 58 mg/dl afterintravenous administration [21].[docslide.net]
Tachycardia
  • Shoulder abduction: May be asymmetric Elbow flexion & extension Abdominal muscles Foot dorsiflexion Scapular winging : Mild; May be asymmetric Respiratory: Mild Face & Eyes: Normal Course: Slow progression Cardiomyopathy: Some patients; Ventricular tachycardia[neuromuscular.wustl.edu]

Workup

Calcium Increased
  • Thus, not only does the increased intracellular calcium increase the rate of muscle contraction it increases glycogenolysis which provides the muscle cell with the glucose it needs to oxidize to satisfy the increased ATP it needs for contraction.[themedicalbiochemistrypage.org]

Treatment

  • Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances.[books.google.de]
  • Liver transplantation has been performed and may be an effective treatment.[ommbid.mhmedical.com]
  • It will be interesting to see how the findings from Lee et al. will lead to better prognoses and treatments for PGM1 deficiency. In the meantime, Tegtmeyer et al. 5 have already tested out a treatment for the disease.[sulab.org]
  • Asinmost glycogenoses, frequent feeding and complex carbohydrate ther-apy are beneficiary in the treatment of liver disease andhypoglycemia inPGM1-CDG.[docslide.net]

Prognosis

  • Prognosis is good; adult patients have normal stature and minimal hepatomegaly.[ommbid.mhmedical.com]
  • Identification of a pathogenic variant may assist with prognosis, clinical management, familial screening, and genetic counseling.[mayomedicallaboratories.com]
  • PMID: 20531024 Prognosis Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ Hum Pathol 2012 Jun;43(6):943-51. Epub 2012 Feb 2 doi: 10.1016/j.humpath.2011.10.001.[ncbi.nlm.nih.gov]

Etiology

  • Etiology The etiology of GSD is best understood by following the metabolic events leading to the synthesis (glycogenesis) and degradation of glycogen (glycogenolysis).[knowledge.statpearls.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Localization myopathic GSD cardiac GSD hepatic GSD Etiology GSD MIM. Deficiency Eponym Gene MIM.[humpath.com]
  • Etiology JAMA Neurol 2014 Jan;71(1):41-7. doi: 10.1001/jamaneurol.2013.4888.[ncbi.nlm.nih.gov]
  • Diverse etiologies (Figure 1 ) implicated in acute RM share a common final pathway, increased intracellular free ionized calcium, leading to muscle cell death through the activation of a number of detrimental mechanisms such as enzymatic activation and[ojrd.biomedcentral.com]

Epidemiology

  • Epidemiological Studies of Diabetes and Atherosclerosis VII. Discussion References Chapter 11. Insulin Antagonists and Disturbances in Carbohydrate Metabolism I. Introduction II. Regulation of Circulating Insulin Activity III.[elsevier.com]
  • Discussions focus on epidemiological studies of diabetes and atherosclerosis, overt diabetes mellitus, and effects of selection, age, obesity, and other factors.[books.google.com]
  • Relevant External Links for PGM1 Genetic Association Database (GAD) PGM1 Human Genome Epidemiology (HuGE) Navigator PGM1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PGM1 No data available for Genatlas for PGM1 Gene Phosphoglucomutase[genecards.org]
  • Lamp-2 : Xq24 Phosphorylase (McArdle's), severe phenotype: 11q13 Triosephosphate isomerase : 12p13 Acid Maltase Deficiency (Glycogen storage disease 2 (GSD2); Pompe disease) Acid α-1,4-glucosidase (GAA) ; Chromosome 17q25.3; Recessive Nosology: LGMD 2V Epidemiology[neuromuscular.wustl.edu]
  • Epidemiology The overall incidence of GSD (all forms) in Europe, Canada, and the United States is estimated to be between 1 in 20,000 and 1 in 40,000.[knowledge.statpearls.com]
Sex distribution
Age distribution

Pathophysiology

  • […] disorders or settings where the test may be helpful Aids in the identification of monocytic differentiation Aids in phenotyping hematolymphoid neoplasms that are suspected to represent histiocytic sarcomas Clinical Information Discusses physiology, pathophysiology[mayomedicallaboratories.com]
  • Pathophysiology Figure 1 summarizes the pathophysiology for each GSD, along with organ(s) affected, as well as the potential signs. In general, GSDs primarily affect the liver, skeletal muscle, or both.[knowledge.statpearls.com]
  • A common pathophysiologic feature of glycogenosis types III, V and VII. N Engl J Med 317: 75–80 PubMed CrossRef Google Scholar 5. Fox IH, Palella TD, Kelley WN (1987) Hyperuricemia: a marker for cell energy crisis.[link.springer.com]
  • The syndrome of rhabdomyolysis: pathophysiology and diagnosis. Eur J Intern Med. 2007;18(2):90–100. PubMed Google Scholar Jhawar M, George P, Pawar B.[ojrd.biomedcentral.com]

Prevention

  • In skeletal muscle, e.g., GSD 5, this can prevent proper muscle functioning, exercise intolerance and rhabdomyolysis.[knowledge.statpearls.com]
  • A high-protein diet may also be effective in preventing hypoglycemia as gluconeogenesis is intact in these patients. Currently, there is no effective treatment for the progressive myopathy or cardiomyopathy.[ommbid.mhmedical.com]
  • Just as cells reciprocally regulate glycolysis and gluconeogenesis to prevent a futile cycle, so too do cells use reciprocal schemes to regulate glycogen breakdown and synthesis.[oregonstate.edu]
  • Treatment for GSDs, in the form of frequent carbohydrate dosing is available for some of the GSDs and functions to prevent the use of the endogenous glycogen catabolic pathway.[invitae.com]
  • These values correspond to a more accurate number needed to treat of 63 patients needing to be treated for 2 years to prevent 1 stroke, rather than the reported 94 patients.Although the number needed to treat is a sim-ple and intuitively appealing measure[documents.tips]

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