Disease Information for Fructose 1,6 diphosphatase deficiency

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Clinical Manifestations
Signs & Symptoms
Fasting intolerant
Awkward Uncoordinated Child
Limb Ataxia
Limb ataxia/clumsiness child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Metabolic disease
Family history/Hypoglycemia
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Fasting hypoglycemia (Lab)
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Abnormal Lab Findings - Increased
Lactic acid/Lactate (Lab)
Associated Diseases & Rule outs
Associated Disease & Complications
Lactic acidosis
Neurodevelopmental disorders
Primary lactic acidemias
Lactic acidosis kids/primary
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Carbohydrate metabolic disorder
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
Definition

An autosomal recessive fructose metabolism disorder due to absent or deficient fructose-1,6-diphosphatase activity. Gluconeogenesis is impaired, resulting in accumulation of gluconeogenic precursors (e.g., amino acids, lactate, ketones) and manifested as hypoglycemia, ketosis, and lactic acidosis. Episodes in the newborn infant are often lethal. Later episodes are often brought on by fasting and febrile infections. As patients age through early childhood, tolerance to fasting improves and development becomes normal.

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External Links Related to Fructose 1,6 diphosphatase deficiency
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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