Disease Information for Phosphoenolpyruvate carboxykinase defic (PEPCK)

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Clinical Manifestations
Signs & Symptoms
Anorexia in Infant
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Fasting intolerant
Feeding/Apetite Problems Child
Poor weight gain/child
Palpable Liver/Hepatomegaly
Hypotonia
Growth/development delay
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Fasting hypoglycemia (Lab)
Mitochondrial DNA analysis defect
URINE Particular Odor
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Abnormal Lab Findings - Increased
Anion gap (Lab)
Lactic acid/Lactate (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Acidosis
Acidosis, metabolic
Growth retardation/failure
Hypoglycemia
Hypoglycemia, infantile
Kreb cycle/EM cycle metabolic defect
Lactic acidosis
Phosphoenopyruvate carboxykinase deficiency
Primary lactic acidemias
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Carbohydrate metabolic disorder
Pathophysiology/Gene locus 20q13
Pathophysiology/Gene locus 20q13.31
Pathophysiology/Gene locus Chromosome 20q
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Non-mendelian maternal heredity
Pathophysiology/Decreased gluconeogenesis,liver
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditary mitochondrial disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
PROCESS/Mitochondrial disorders (ex)
Synonyms
Synonym
Phosphoenolpyruvate carboxykinase defic (PEPCK), Synonym/GSD II/Glycogen storage disease II, Synonym/Mitochondrial PEPCK Deficiency, Synonym/Mitochondrial Phosphoenolpyruvate carbokinase defect, Synonym/PEPCK Deficiency
Definition

PEPCK Deficiency, Mitochondrial; Phosphoenolpyruvate Carboxykinase Deficiency; Mitochondrial PEPCK Deficiency is an extremely rare disorder of carbohydrate metabolism inherited as an autosomal recessive trait; A deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is a key enzyme in the conversion of proteins and fat to glucose (gluconeogenesis), causes an excess of acid in the circulating blood (acidemia); Characteristics of this

disorder are low blood sugar (hypoglycemia), loss of muscle tone, an abnormal enlargement of the liver and failure to gain weight and grow normally; [NORD]----------------------------------.PHOSPHOENOLPYRUVATE CARBOXYKINASE (PEPCK) DEFICIENCY; PEPCK is a key enzyme in gluconeogenesis; It catalyzes the conversion of oxaloacetate to phosphoenolpyruvate; PEPCK deficiency has been described both as a mitochondrial and as a cytosolic enzyme deficiency; The disease has been reported rarely; The clinical features are heterogeneous, with hypoglycemia, lactic acidemia, hepatomegaly, hypotonia, developmental delay, and failure to thrive as the major manifestations. Hepatic and renal dysfunction may be present; The diagnosis is based on the reduced activity of PEPCK in liver, fibroblasts, or lymphocytes. Fibroblasts and lymphocytes are not suitable for diagnosing the cytosolic form of PEPCK deficiencybecause these tissues possess only mitochondrial PEPCK; [Rudolph"s Pediatrics 2002] ----------------------------------------

PEPCK Deficiency, Mitochondrial Phosphoenolpyruvate Carboxykinase Deficiency.Mitochondrial PEPCK Deficiency is an extremely rare disorder of carbohydrate metabolism inherited as an autosomal recessive trait. A deficiency of the enzyme phosphoenolpyruvate carboxykinase, which is a key enzyme in the conversion of proteins and fat to glucose (gluconeogenesis), causes an excess of acid in the circulating blood (acidemia). Characteristics of this disorder are low blood sugar (hypoglycemia), loss of muscle tone, an abnormal enlargement of the liver and failure to gain weight and grow normally.[NORD 2005]

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External Links Related to Phosphoenolpyruvate carboxykinase defic (PEPCK)
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NEJM (The New England Journal of Medicine)
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