Disease Information for Pyruvate carboxylase enzyme deficiency/PCD

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Clinical Manifestations
Signs & Symptoms
Anorexia in Children
Fasting intolerant
Vomiting
Hypotonia
Ataxia
Ataxia/Posterior columns
Awkward Uncoordinated Child
Clumsiness/poor coordination
Delayed crawling milestone/infant
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Infant Seizures
Limb Ataxia
Limb ataxia/clumsiness child
Psychomotor regression/infant/child
Seizures
Seizures Newborn
Seizures/Children/recurrent
Sensory Ataxia
Staggering Gait
Episodic symptoms/events
Typical Clinical Presentation
Stroke syndrome kids/metabolic causes
Clinical Presentation & Variations
Presentation/Non diabetic Ketoacidosis Kids infants
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/Infancy
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)
URINE Particular Odor
Abnormal Lab Findings - Decreased
Glucose, blood (Lab)
Abnormal Lab Findings - Increased
Anion gap (Lab)
Lactic acid/Lactate (Lab)
Diagnostic Test Results
Pathology
BX/Skin fibroblasts enzyme assay abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Acidosis
Acidosis, metabolic
Hypoglycemia
Hypoglycemia, infantile
Kreb cycle/EM cycle metabolic defect
Lactic acidosis
Neonatal hyperbilirubinemia
Neurodevelopmental disorders
Primary lactic acidemias
Ataxia Disorder
Lactic acidosis kids/primary
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Carbohydrate metabolic disorder
Pathophysiology/Conversion Pyruvate to Oxaloacetate block
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Bilirubinemia/neonatal/kernicterus risk
Pathophysiology/Decreased gluconeogenesis,liver
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Organic acidemia metabolic disorder (ex)
PROCESS/Two/multiple subsets/disease pattern
Synonyms
Synonym
Ataxia with lactic acidosis II, Ataxia with Lactic Acidosis Type II, carboxylase pyruvate deficiency, DEFIC DIS PYRUVATE CARBOXYLASE, Deficiency Disease Pyruvate Carboxylase, Deficiency of pyruvate carboxylase, Deficiency of pyruvate carboxylase (disorder), Deficiency of pyruvic carboxylase, deficiency pyruvate carboxylase, Lactic Acidosis with Ataxia Type II, LEIGH NECROTIZING ENCEPHALOPATHY DUE TO PYRUVATE CARBOXYLASE DEFICIENCY, LEIGH SYNDROME DUE TO PYRUVATE CARBOXYLASE DEFICIENCY, PC Pyruvate carboxylase deficiency, PC DEFICIENCY, PC Pyruvate carboxylase defic, PYRUVATE CARBOXYLASE DEFIC DIS, Pyruvate carboxylase deficien, pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency (disorder), Pyruvate Carboxylase Deficiency Disease, Type II Ataxia with Lactic Acidosis, Synonym/Ataxia with Lactic acidosis-Type II, Synonym/Multiple Carboxylase Deficiency, Synonym/PC Deficiency, Group A and B, Synonym/Pyruvate Carboxylase Deficiency- Group A, Synonym/Pyruvate Carboxylase Deficiency- Group B, Synonym/Pyruvic Carboxylase Group B
Definition

Pyruvate carboxylase deficiency is a single enzyme defect metabolic disorder; synonyms are: Ataxia with Lactic acidosis-Type II, PC Deficiency,PC Deficiency- Group A,

PC Deficiency- Group B, Pyruvate Carboxylase Deficiency- Group A, Pyruvate Carboxylase Deficiency- Group B, PCD;

Pyruvate Carboxylase Deficiency is a rare genetic metabolic disorder that is present at birth; It is classified as a lactic acidemia in which the conversion of pyruvate to oxaloacetate is blocked, impairing gluconeogenesis and resulting in an overabundance of lactic acid in the blood; Major symptoms may include delayed development, muscle weakness (hypotonia), impaired ability to control voluntary movements (ataxia), seizures, and vomiting----[NORD 2005]--

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External Links Related to Pyruvate carboxylase enzyme deficiency/PCD
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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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