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Disease Information for Pyruvate carboxylase enzyme deficiency/PCD

Clinical Manifestations

Signs & Symptoms

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

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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