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]

[…] as liver disease of childhood; progresses to liver cirrhosis and ultimate failure; deathusually by age 2 Less common presentations are congenital hypotonia with death from cardiorespiratory failure and childhood neuromuscular form leading to myopathy [quizlet.com]

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]

• Amyloidosis

  Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly Glycoprotein Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis Other Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis [wikidoc.org]

  […] suture opacities 4 Cataract, Coppock-like 4 Cataract, cerulean 4 Cataract, nuclear 4 Cataract, posterior polar 4 Cataract, pulverulent 4 Cataract, zonular 4 Cataract-microcornea syndrome 4 Celiac disease 4 Central core disease 4 Cerebral hemorrhage with amyloidosis [research.cchmc.org]

  GCD2 GCDHD GCDI GCDII GCGR-related hyperglucagonemia GCL GCM syndrome GCPS GCT of bone GDCD GDD GDE deficiency GDS GEFS+ GEKA Gelatinous ascites Gelatinous drop-like corneal dystrophy Geleophysic dwarfism Geleophysic dysplasia Gélineau disease Gelsolin amyloidosis [orpha.net]

  Amyloidosis and exercise intolerance in ANO5 muscular dystrophy. Neuromuscul Disord. 2012;22(1):13–5. PubMed Google Scholar Cagliani R, Comi GP, Tancredi L, Sironi M, Fortunato F, Giorda R, et al. [ojrd.biomedcentral.com]

• Tremor

  […] chromosome breakage 4 Thrombotic thrombocytopenic purpura, congenital, due to ADAMTS-13 deficiency 4 Thyroid carcinoma, papillary or follicular 4 Thyrotoxic periodic paralysis 4 Tibial muscular dystrophy 4 Tietz syndrome 4 Treacher-Collins syndrome 4 Tremor [research.cchmc.org]

  Reduced Triosephosphate isomerase activity in many tissues Clinical: Most severe clinical disorder fo fo glycolysis Onset: < 2 years Hemolytic anemia: Chronic; Non-spherocytic; Crises Recurrent infections CNS Mental retardation Dystonia Cerebellar Tremor [neuromuscular.wustl.edu]

• Dysarthria

  They may also have other neurological problems, such as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). [smpdb.ca]

  Basilar atelectasis Pulmonary hypertension Treatment: Nocturnal ventilation 16 Axial: Abdominal & Paraspinal muscles Proximal > Distal Legs > Arms: Hip flexors & extensors, adductors & abductors Paraspinous muscles (Atrophy) Bulbar: Tongue; Dysphagia & Dysarthria [neuromuscular.wustl.edu]

• Liver Biopsy

  His liver biopsy demonstrated “excess” glycogen but was otherwise unremarkable, and the serum creatine kinase (CK) level was found to be 50 times normal. Myoglobin was demonstrated in his urine. [clinicalgate.com]

  […] the non-progressive form present with hepatomegaly and sometimes elevated transaminases.  Although fibrosis can be detected in liver biopsies, this is apparently non-progressive.  No cardiac or skeletal muscle involvement is seen.  These patients [slideshare.net]

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]

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]

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]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [server1.resourcerepository.org]

Antibiotic agents have improved the prognosis for individuals with severe neutropenia. [en.wikipedia.org]

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]

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]

"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]

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]

[…] 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 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]

[edit] The pathophysiology of neutropenia can be divided into congenital and acquired. [en.wikipedia.org]

[…] 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]

[…] 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]

Inherited defects in proteins which regulate glycogen metabolism, those which enact glycogenolysis and glycogen synthesis cause pathological glycogen accumulation – or prevent its formation. [els.net]