Symptoma

Disorders of Pyruvate Metabolism and Gluconeogenesis

Pyruvate Metabolism Disorder - Gluconeogenesis Disorder

It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly. [icd10data.com]

The presentation of sepsis varies by age and underlying etiology. The clinical presentation of sepsis is especially variable in the newborn period. [ahcmedia.com]

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]

Otherwise, fasting hypoglycaemia in adulthood may be a presenting sign of an IEM, although they are rare. [ojrd.biomedcentral.com]

This is presumably due to different isoenzymes being present in different tissues. Mild degrees of galactose kinase deficiency present solely with cataracts in childhood. This enzyme also can be assayed in RBCs. [emedicine.medscape.com]

  • 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]

    For reasons that are still incompletely understood, a severe defect of HPRT also causes brain-neurotransmitter dysfunction, resulting in a severe spastic form of movement disorder and also a stereotypical compulsion for self-injurious behavior. [encyclopedia.com]

  • Amyloidosis

    Symptoms of amyloidosis depend on the organs it affects. The wide range of symptoms often makes amyloidosis difficult to diagnose. [encyclopedia.com]

  • Respiratory Distress

    Clinical manifestations include lactic acidosis, seizures, respiratory distress, marked psychomotor delay, periodic hypoglycemia, and hypotonia. The clinical course may be similar to leigh disease. [icd10data.com]

    distress Juvenile and adult form skeletal myopathy delayed-gross motor development limb-girdle weakness respiratory issues Enzyme replacement therapy alglucosidase alfa Cori disease (type III) Glycogen debranching enzyme Autosomal recessive Most cases [medbullets.com]

    Diagnosis [ edit ] Several different problems may lead to the diagnosis, usually by two years of age: seizures or other manifestations of severe fasting hypoglycemia hepatomegaly with abdominal protuberance hyperventilation and apparent respiratory distress [en.wikipedia.org]

    Many pediatric cases present with impaired consciousness, repeated seizures, severe anemia, respiratory distress, or shock. [ahcmedia.com]

  • Muscle Weakness

    Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, episodes of lactic acidosis are triggered by an illness or periods without food (fasting). [icdlist.com]

    It presents with hypoglycemia, failure to thrive, metabolic acidosis, muscle weakness, and hepatomegaly. [icd10data.com]

    weakness In type IIb, intellectual disability Treatment: For symptomatic patients, enzyme replacement (alglucosidase alfa) For cardiomyopathy, heart transplantation Type IIa Lysosomal acid α -glucosidase GAA (17q25)* Type IIb (Danon) Lysosomal membrane [msdmanuals.com]

    In patients with disease also involving muscle (type IIIa), muscle weakness, though minimal during childhood, can become predominant in adults; these patients show signs of neuromuscular involvement, with slowly progressive weakness and distal muscle [ommbid.mhmedical.com]

    Other disorders : PEP carboxykinase deficiency is very rare; begins in neonatal period and involves FTT, microcephaly, developmental delay, seizures, hepatomegaly, renal tubular acidosis, cardiomyopathy and muscle weakness (van den Berghe, 1996). [pedclerk.bsd.uchicago.edu]

  • Arthritis

    As a consequence, glucocorticoids are widely used as drugs to treat inflammatory conditions such as arthritis or dermatitis, and as adjunction therapy for conditions such as autoimmune diseases. [vivo.colostate.edu]

    Fortunately, the urine discoloration is not detrimental to people with this IEM; however, alkaptonurics do tend to develop arthritis later in life. PKU is a serious IEM caused by a liver enzyme deficiency. [encyclopedia.com]

    The buildup of uric acid in the joints and tissues causes arthritis and inflammation. gp100 A tumor-specific antigen used in the development of cancer vaccines. [cancer.gov]

  • Small Head

    Persistent high levels of phenylalanine in the blood in turn result in progressive developmental delay, a small head circumference, behaviour disturbances, and seizures. [britannica.com]

  • Psychomotor Retardation

    retardation-progressive brain atrophy-basal ganglia disease syndrome Intermediate maple syrup urine disease Intermediate severe Salla disease Intermittent maple syrup urine disease Isobutyryl-CoA dehydrogenase deficiency Isolated ATP synthase deficiency [se-atlas.de]

  • Muscle Tone Abnormalities

    In the most severe form, pyruvate carboxylase deficiency results in progressive neurologic symptoms, starting in the neonatal or early infantile period, including developmental delay, poor muscle tone, abnormal eye movements, and seizures. [emedicine.medscape.com]

  • Motor Disturbances

    Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis. [icd10data.com]

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]

The diagnosis workup is summarized in Figure 2. [ojrd.biomedcentral.com]

Treatment : Glucose IV. Diet. [pedclerk.bsd.uchicago.edu]

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]

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]

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]

TREATMENT: Treatment options vary and are dependent upon the underlying cause of the hypercortisolism. Therefore differentiation of the cause is essential for effective treatment. [wikilectures.eu]

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]

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

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]

[…] 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]

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]

The presentation of sepsis varies by age and underlying etiology. The clinical presentation of sepsis is especially variable in the newborn period. [ahcmedia.com]

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]

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 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]

The investigators examined 9 novel mutations of the PC gene in 5 unrelated patients, 2 of whom had type A and 3 of whom had type B PC deficiency. [4, 5] Epidemiology Pyruvate carboxylase (PC) deficiency is a rare disorder, with an approximate incidence [emedicine.medscape.com]

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]

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]

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]

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]

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]

These studies may uncover clues to help prevent, diagnose, and treat disease. [cancer.gov]

Once the diagnosis has been made, the principal goal of treatment is to maintain an adequate glucose level and prevent hypoglycemia. [en.wikipedia.org]