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Gluconeogenesis Disorder

PDH


Presentation

  • New in this Edition: Regulation of food intake and feeding behavior Daily recommended nutrient intakes Metabolism Toxicology Nutrigenomics, epigenetics, and gene expression Cell cycle and life span nutrition The book presents a wealth of illustrations[books.google.de]
  • Severe neonatal form (type B) is most common in France and the United Kingdom and has a lower survival than type A. [ 1 ] Benign form (type C) is very rare with only a few recognised cases worldwide. [ 3 ] Presentation Presentation will vary according[patient.info]
  • Make the most of your limited time with easy-to-digest blocks of information, consistently presented for clear readability and quick reference.[books.google.com]
  • It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly.[icd10data.com]
Hemophilia A
  • Stay up to date with new chapters on Clotting Disorders and Hemophilia, Patient-Centered Care, Health Disparities and Diversity in Emergency Medicine, Cost-Effectiveness Analysis, Antibiotic Recommendations for Empirical Treatment of Selected Infectious[books.google.com]
Multiple Organ Dysfunction Syndrome
Movement Disorder
  • 94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100[books.google.com]
Cerebral Palsy
  • 94 Paroxysmal Dyskinesias E-1637 95 Movement Disorders of Infancy E-1646 96 DrugInduced Movement Disorders in Children E-1651 97 Cerebral Palsy E-1660 98 Tics and Tourette Syndrome E-1673 99 Genetic and Metabolic Disorders of the White Matter E-1690 100[books.google.com]
Cheyne-Stokes Respiration
  • Apnoeic episodes or Cheyne-Stokes respiration. Spasticity. Differential diagnosis Other congenital metabolic disorders, eg Leigh's syndrome.[patient.info]

Workup

  • Workup The initial workup readily identifies lactic acidosis. Once the more common acquired causes of lactic acidosis have been excluded, order appropriate tests to diagnose one of the less common inborn errors of metabolism.[emedicine.medscape.com]
Pericardial Effusion

Treatment

  • Get clear, concise descriptions and evidence-based treatment guidelines for a full range of clinical conditions, ranging from the common to the unusual.[books.google.com]
  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.de]
  • Consult a doctor or other health care professional for diagnosis and treatment of medical conditions. For details see our conditions .[patient.info]
  • Focus on the development, function, and treatment of a wide range of disease entities with the text’s clear, logical, organ-system approach.[books.google.com]

Prognosis

  • This concept has been used in PCD. [ 8 ] Prognosis Despite all therapeutic interventions, the prognosis remains poor, with the majority of affected children dying before the age of six months.[patient.info]
  • In this paper, the clinical picture, pathophysiology, diagnostic tests, genetics, treatment and prognosis of the deficiencies of fructose-1,6-bisphosphatase and phosphoenolpyruvate carboxykinase are reviewed.[link.springer.com]
  • Prognosis is good; adult patients have normal stature and minimal hepatomegaly.[ommbid.mhmedical.com]
  • […] disease type 1a and fructose-1,6-bisphosphatase deficiency. ( 20127282 ) Huidekoper H.H....Wijburg F.A. 2010 15 Fructose 1,6-bisphosphatase deficiency: enzyme and mutation analysis performed on calcitriol-stimulated monocytes with a note on long-term prognosis[malacards.org]
  • 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]

Etiology

  • We attempt to define MetS mechanistically to determine its specific etiologies and to identify targets for therapy.[pediatrics.aappublications.org]
  • There are many etiologies, but the syndrome is generally classified into two categories- Adrenocorticotropic hormone (ACTH) dependent or ACTH independent. A third pseudo-Cushing’s syndrome is also discussed.[wikilectures.eu]
  • Type 1 Diabetes Type 2 Diabetes Etiology Autoimmune Peripheral insulin resistance Formerly known as IDDM NIDDM or “adult onset” diabetes Age of onset Younger Older Obesity Rare Common Family History Rare Common HLA association/Genetic association Yes[news-medical.net]
  • Herzog B....Eschrich K. 2001 24 False positive fructose loading: a pitfall in the diagnosis of fructose-1,6-bisphosphatase deficiency. ( 11032338 ) Lund A.M....Leonard J.V. 2000 25 Fructose-1,6-diphosphatase deficiency and glyceroluria: one possible etiology[malacards.org]
  • If evidence of metabolic etiology appears, differentiating between disorders affecting white muscle (ie, the carbohydrate errors discussed here) and disorders affecting red muscle (ie, errors of lipid and mitochondrial metabolism) is essential, because[emedicine.medscape.com]

Epidemiology

  • Epidemiology Three forms of this disorder have been described: A, B and C. [ 2 ] C is the least severe. Infantile form (type A) is most commonly seen in North America with an incidence of approximately 1 in 250,000.[patient.info]
  • EPIDEMIOLOGY: Cushing syndrome can occur at any age, but usual onset is between 30 and 50 years of age. It is two to three times more common in women than in men.[wikilectures.eu]
  • Relevant External Links for G6PC Genetic Association Database (GAD) G6PC Human Genome Epidemiology (HuGE) Navigator G6PC Atlas of Genetics and Cytogenetics in Oncology and Haematology: G6PC No data available for Genatlas for G6PC Gene Mutation frequencies[genecards.org]
  • Epidemiology [ edit ] In the United States, GSD I has an incidence of approximately 1 in 50,000 [1] to 100,000 [2] births. None of the glycogenoses are currently detected by standard or extended newborn screening .[en.wikipedia.org]
  • There is enough epidemiological evidence that a diet high in polyphenol‐rich fruit, vegetables, cocoa, and beverages offer protection against developing cardiovascular disease and type 2 diabetes.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • In this paper, the clinical picture, pathophysiology, diagnostic tests, genetics, treatment and prognosis of the deficiencies of fructose-1,6-bisphosphatase and phosphoenolpyruvate carboxykinase are reviewed.[link.springer.com]
  • Causes/Pathophysiology : Currently idiopathic.[pedclerk.bsd.uchicago.edu]
  • Understanding Pathophysiology (3rd Ed.). St. Louis, MO: Mosby. Nieman, L.K. (2012). Causes and pathophysiology of Cushing’s syndrome. In A. Lacroix and K.A. Martin (Eds.), UpToDate. Retrieved from cushings-syndrome[wikilectures.eu]
  • Pathophysiology behind symptoms and complications of diabetes Polydipsia or increased thirst is due to high blood glucose that raises the osmolarity of blood and makes it more concentrated.[news-medical.net]
  • Pathophysiology [ edit ] The principal metabolic effects of deficiency of glucose-6-phosphatase are: hypoglycemia , lactic acidosis , hypertriglyceridemia , and hyperuricemia . Map of effects in GSDIa from non-functioning glucose-6-phosphatase.[en.wikipedia.org]

Prevention

  • Prenatal diagnosis is possible. [ 5 ] Pharmacological Various therapeutic interventions have been attempted, such as constant drip feeding to prevent hypoglycaemia and the addition of high-dose citrate and aspartate to provide oxaloacetate.[patient.info]
  • Insulin will prevent glucose levels from increasing to a point that is too high, while glucagon prevents it from dropping too low.[hormone.org]
  • 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]
  • Restoration of gluconeogenesis did not occur if biotin was excluded from the nutrient medium, nor was it prevented by protein-synthesis inhibitors.[biochemj.org]
  • Once the diagnosis has been made, the principal goal of treatment is to maintain an adequate glucose level and prevent hypoglycemia.[en.wikipedia.org]

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