Presentation
However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. [books.google.com]
Clinical Presentation Hepatic Presentation Hepatomegaly, short stature, hypoglycemia, and hyperlipidemia predominate in children, may be indistinguishable from GSD I. Splenomegaly can be present. kidneys are not enlarged and renal function is [slideshare.net]
Glycogenosis type 13 Muscle enolase deficiency Muscular enolase deficiency Prevalence: Inheritance: Autosomal recessive Age of onset: Adult ICD-10: E74.0 OMIM: 612932 UMLS: C2752027 MeSH: - GARD: 2125 MedDRA: - The documents contained in this web site are presented [orpha.net]
Treatment
However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. [books.google.com]
Side effects: Infusion reactions Predictors of good histologic response to treatment of infant onset type 21 Low glycogen levels Mild ultrastructural damage High proportion of type I muscle fibers Young age at baseline Albuterol (8 mg bid): May improve [neuromuscular.wustl.edu]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Dietary Treatment The goal of treatment is, as far as possible, to prevent hypoglycemia, thus limiting secondary metabolic derangements. Initially, treatment consisted of frequent carbohydrate- enriched meals during day and night. In 1974, continuous [slideshare.net]
Prognosis
Follow-up, Complications, Prognosis, Proximal and distal renal tubular as well as glomerular functions are at risk. Single or multiple liver adenomas may develop in the second or third decade. Osteopenia. Anemia. Polycystic ovaries (PCOs). [slideshare.net]
[…] function in some patients Liver glycogen phosphorylase gene: PYGL; AR tissues: liver glycogen levels/ structure: inc amnt; normal structure Clinical Sx: Type VI (Hers Dz) Mild to moderate hypoglycemia, mild ketosis, growth retardation and hepatomeglay; prognosis [quizlet.com]
Treatment and Prognosis The treatment of choice for a patient having an acute attack of periodic paralysis is by correction of abnormal potassium levels. Severe hyperkalemia necessitates emergency treatment with intravenous (IV) glucose and insulin. [clinicalgate.com]
Chien YH, Lee NC, Chen CA, et al. (2015) Long‐term prognosis of patients with infantile‐onset Pompe disease diagnosed by newborn screening and treated since birth. Journal of Pediatrics 166: 985–991. [els.net]
Etiology
Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 2007; 24(1): 15–25. CrossRef PubMed Google Scholar Kollberg et al. [link.springer.com]
On the other hand, the late-onset variant of GSD IV (adult polyglucosan body disease APBD) is one of several polyglucosan disorders (including La- fora disease) due to different etiologies. [archive.org]
On the other hand, the late-onset variant of GSD IV (adult polyglucosan body disease APBD) is one of several polyglucosan disorders (including Lafora disease) due to different etiologies. [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]
"Primary thrombocytopenic purpura and acquired hemolytic anemia; evidence for a common etiology". Archives of Internal Medicine. 87 (1): 48–65. doi:10.1001/archinte.1951.03810010058005. PMID 14782741. ^ "Evans syndrome". [en.wikipedia.org]
Epidemiology
[…] with homozygous Arg50Stop mutation Linearization of internal architecture on NADH Type 1 muscle fiber atrophy Rare: Rimmed vacuoles Chronic myopathic changes: Unusual Muscle glycogen level: High; 2- to 4-fold PYGM variant: PYGM myopathy, Dominant 39 Epidemiology [neuromuscular.wustl.edu]
12 - Glycogenosis due to aldolase A deficiency - Glycogenosis type 12 Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare hematologic disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]
GSD I is typically treated with frequent small meals of carbohydrates and cornstarch to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor. [21] Epidemiology [ edit ] Overall, according [en.wikipedia.org]
Pathophysiology
Pathophysiology In this condition, a deficiency of the M subunit ( PFKM ) of the phosphofructokinase enzyme impairs the ability of cells such as erythrocytes and rhabdomyocytes (skeletal muscle cells) to use carbohydrates (such as glucose ) for energy [infogalactic.com]
[…] electron-transferring flavoprotein and CoQ oxidoreductase deficiencies) Lactate dehydrogenase deficiency—Type XI Combination of I to V Neutral lipid storage disease with myopathy; neutral lipid storage disease with ichthyosis Beta enolase deficiency—Type XII Pathophysiology [clinicalgate.com]
Seminal research by Carl and Gerty Cori into the pathophysiology of glycogen metabolism opened up scientific universe of hormonal signalling, phosphorylation control and second messengers. [els.net]
Pathophysiology Metabolic Pathway Metabolic pathways showing defects in various glycogen storage diseases, (ɔ) Image courtesy of WikiDoc.org, by " Dr. [wikidoc.org]
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
[…] to reduce or prevent further deterioration of renal function. [slideshare.net]
These are prevented by avoiding dietary carbohydrate loads. Maintenance therapy with the carbonic anhydrase inhibitor (CAI) acetazolamide is usually indicated to prevent attacks. [clinicalgate.com]
[…] rhamdomyolysis and myoglobinuria triggered by an illness, w/ fever, exercise, fasting or exposure to cold temps -lipid droplets accumulate in pts muscle tissue and his/her plasma triglycerides and free fatty acids are elevated tx: high carb, low fat diet can prevent [quizlet.com]
GSD I is typically treated with frequent small meals of carbohydrates and cornstarch to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor. [21] Epidemiology [ edit ] Overall, according [en.wikipedia.org]
[…] out of exon 2 Splicing is "leaky"; Some functional enzyme is produced Common (> 70%) in adult onset weakness & later respiratory failure Uncommon in children Tyr455Phe: Juvenile onset Missense: Most other mutations Many allow precursor formation But prevent [neuromuscular.wustl.edu]