We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and some exertional myalgia. Investigations of muscle biopsy tissue showed a residual PGaM activity in muscle due to a small amount of brain isoenzyme. [ncbi.nlm.nih.gov]

Special emphasis is placed on acutely presenting disorders and emergency situations. The rationale of the approaches presented in this book are based on extensive, collective clinical experience. [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]

• Weakness

  Phosphoglycerate mutase enzyme deficiency in muscle causes a metabolic myopathy (glycogen storage disease X) characterized by exertional muscle contractures, weakness, hyperCKemia, and myoglobinuria. [ncbi.nlm.nih.gov]

  In patients with weakness of adult onset, the diagnosis is impossible to make without performing a muscle biopsy. [jamanetwork.com]

  Type II (GSD II) Type II (GSD II - acid maltase deficiency) - 3 types: - Infantile onset: cardiomegaly and heart failure, liver disease, weakness and hypotonia. - Childhood onset: proximal symmetrical weakness with enlarged muscles due to glycogen accumulation [rrnursingschool.biz]

  Spontaneous movement declines, the cry becomes weak and struggling, and swallowing is dysfunctional. Respiratory difficulty results from the skeletal muscular weakness and inability to handle pooled nasopharyngeal secretions. [euroformhealthcare.biz]

• Fatigue

  - Adult onset: fatigue early in the disease followed by proximal weakness, and eventually RF. RF may the presenting feature in 30% of patients. [rrnursingschool.biz]

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Menkes Disease July 9, 2018 by Peter [checkrare.com]

  […] 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]

  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

  ALSTROM SYNDROME; ALMS Is also known as alss; Related symptoms: Autosomal recessive inheritance Intellectual disability Seizures Global developmental delay Short stature SOURCES: GARD NCIT DOID SCTID UMLS OMIM MONDO MESH ORPHANET More info about ALSTROM [mendelian.co]

  Patients may also have hearing loss, short stature, cardiomyopathy, diabetes, or pigmentary retinal degenerations resembling KSS or CPEO. As many as 80% of patients have mtDNA point mutations in the tRNA leucine gene. [what-when-how.com]

  stature, hypertriglyceridemia, hyperuricemia, platelet dysfunction with epistaxis, and anemia In type Ib, less severe but including neutropenia, neutrophil dysfunction with recurrent infections, and inflammatory bowel disease Treatment: Uncooked cornstarch [msdmanuals.com]

  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]

• Fever

  S2CID 28782021. ^ "Enteric Fever (Typhoid Fever)". The Lecturio Medical Concept Library. 27 August 2020. Retrieved 11 August 2021. ^ "Tuberculosis". The Lecturio Medical Concept Library. [en.wikipedia.org]

  In addition, fever, fasting and stress can induce symptoms. Symptoms are not triggered by isometric contraction in people with fatty acid metabolism dysfunction. [ojrd.biomedcentral.com]

  Hematuria Abnormality of lipid metabolism Ptosis Splenomegaly Generalized hirsutism Insulin resistance Fever Pneumonia Hepatic steatosis Encephalopathy Nephrotic syndrome Myalgia Arthralgia Alopecia Dilated cardiomyopathy Lymphadenopathy Autosomal dominant [mendelian.co]

  […] type 10 INS Maturity-onset diabetes of the young type 11 BLK Maturity-onset diabetes of the young, NKX2-2 related NKX2-2 Maturity-onset diabetes of the young, RFX6 related RFX6 Maturity-onset diabetes of the young, ZFP57 related ZFP57 Mediterranean fever [centogene.com]

  Deficiency, Combined Factor V Deficiency Factor VII Deficiency Factor X Deficiency Factor XI Deficiency Factor XII Deficiency Familial Advanced Sleep Phase Syndrome Familial Cold Autoinflammatory Syndrome Familial Dysautonomia Familial Mediterranean Fever [sequencing.com]

• Infertility

  Systemic Amyloidotic Polyneuropathy, Cardiac or Denmark Type Amyloidotic Polyneuropathy, German-American Type Andermann Syndrome Andersen Cardiodysrhythmic Periodic Paralysis Anderson Disease Androgen Insensitivity Syndrome Androgen Insensitivity Syndrome, Infertility [sequencing.com]

• Hepatomegaly

  Hepatomegaly: Yes Muscle Symptoms: Myopathy can occur Glucose Homeostasis: Normal until end stage liver disease Other Biochemistry: Raised AST/ALT, CK can be raised Hepatomegaly: No Muscle Symptoms: Exertional muscle weakness with risk of rhabdomyolysis [quizlet.com]

  Number) Defective Proteins or Enzymes Defective Gene or Genes (Chromosomal Location) Comments GSD I (Von Gierke disease) Most common type of GSD I: Ia ( > 80%) Onset: Before 1 yr Clinical features: Before 1 yr, severe hypoglycemia, lactic acidosis, and hepatomegaly [msdmanuals.com]

  Prognosis is good; adult patients have normal stature and minimal hepatomegaly. [ommbid.mhmedical.com]

  Patients with Hers' disease have no specific neurological or muscle findings but display varying degrees of growth retardation, hypoglycemia, ketosis, and hepatomegaly. [euroformhealthcare.biz]

  - Childhood form associated with hypoglycemia, seizures, growth retardation, weakness, liver dysfunction and hepatomegaly. - Adult form develops in the 3rd to 6th decade and is slowly progressive. [rrnursingschool.biz]

• Muscle Cramp

  Patients: Two unrelated men (21 and 26 years old) with PGAMD who since their teens had experienced muscle cramps, muscle pain, and episodes of myoglobinuria provoked by brief vigorous exercise, 4 patients with McArdle disease (mean±SD age, 32±5 years) [utsouthwestern.influuent.utsystem.edu]

  […] with CNS dysfunction and hemolytic Muscle phosphoglycerate mutase Similar to Type V but rare and most prevalent in African Pyruvate kinase deficiency Muscle cramps and persistent generalized muscle weakness; Lactate dehydrogenase deficiency Similar to [quia.com]

  DISEASE: Glycogen storage disease 10 (GSD10) [MIM:261670]: A CC metabolic disorder characterized by myoglobinuria, increased serum CC creatine kinase levels, decreased phosphoglycerate mutase CC activity, myalgia, muscle pain, muscle cramps, exercise [mascot.plantenergy.uwa.edu.au]

  Definition A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance. [uniprot.org]

  This defect underlies the muscle cramping and myoglobinuria that occur after strenuous exercise in affected individuals. [ghr.nlm.nih.gov]

• Muscle Spasm

  Prolonged muscle spasm (muscle contracture) is not uncommon and can lead to RM. [ojrd.biomedcentral.com]

Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping Mass-spectrometry based quantification of biomarkers is a routine step in the diagnostic workup of many diseases at CENTOGENE. [centogene.com]

• Hypoglycemia

  Age of onset, clinical manifestations, and severity vary by type, but symptoms and signs are most commonly those of hypoglycemia and myopathy. [msdmanuals.com]

  Hypoglycemia and hyperlipidemia are variable and, if present, usually mild. There is no hyperlactic acidemia or hyperuricemia. Treatment is based on the symptoms with a high-carbohydrate diet and frequent feedings to alleviate hypoglycemia. [ommbid.mhmedical.com]

  hypoglycemia and suppress secondary metabolic decompensation. [slideshare.net]

  Since severe hypoglycemia is the best screening indicator of this class of disease, postprandial and glucose tolerance tests are particularly useful. [euroformhealthcare.biz]

  […] course Onset depends on the specific glycogen storage disease (GSD) and can range Onset/age from infantile to adult onset as outlined below Clinical syndrome Type I (GSD I - von Gierke disease) is characterized by growth retardation, Type I (GSD I) hypoglycemia [rrnursingschool.biz]

Prognosis and treatment of glycogen storage diseases vary by type, but treatment typically includes dietary supplementation with cornstarch to provide a sustained source of glucose for the hepatic forms of GSD and exercise avoidance for the muscle forms [msdmanuals.com]

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]

Página 414 - Report of the National Cholesterol Education Program (NCEP) Expert Panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel II). ‎ [books.google.es]

Treatments may include special diets, supplements, and medicines. Some babies may also need additional treatments, if there are complications. For some disorders, there is no cure, but treatments may help with symptoms. [medlineplus.gov]

Liver transplantation has been performed and may be an effective treatment. [ommbid.mhmedical.com]

Prognosis is good; adult patients have normal stature and minimal hepatomegaly. [ommbid.mhmedical.com]

Despite any of these interventions, the prognosis is guarded for patients with all of the glycogenoses. [euroformhealthcare.biz]

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]

Prognosis and treatment of glycogen storage diseases vary by type, but treatment typically includes dietary supplementation with cornstarch to provide a sustained source of glucose for the hepatic forms of GSD and exercise avoidance for the muscle forms [msdmanuals.com]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]

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. [scienceopen.com]

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]

Neutropenic fever in individuals treated for cancer has a mortality of 4–30%.[47] Epidemiology[edit] Neutropenia is usually detected shortly after birth, affecting 6% to 8% of all newborns in neonatal intensive care units (NICUs). [en.wikipedia.org]

Data from combined studies has involved >2,000,000 samples from routine analyses and international screening programs of roughly 7,000 patients diagnosed with different LSDs demonstrates our expertise in these diseases including precise epidemiological [centogene.com]

Chinnery PF, Johnson MA, Wardell TM et al. (2000) The epidemiology of pathogenic mitochondrial DNA mutations. Ann Neurol 48: 188–193 PubMed Google Scholar 18. [link.springer.com]

Understanding of the pathophysiology underlying the metabolic myopathies provides unique insights into the normal regulation of muscle metabolism. [neuromuscular.dk]

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

The Lipid Research Clinics Coronary Primary Prevention Trial Results, II: the relationship of reduction in incidence of coronary heart disease to cholesterol lowering. ‎ [books.google.es]

Knowledge of the pathogenesis, genetics, and molecular biology of neuromuscular disorders is essential both in developing and applying new therapies and preventive measures, and in formulating genetic and prognostic advice. [books.google.com]

[…] to reduce or prevent further deterioration of renal function. [slideshare.net]

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]