Pyruvate carboxylase deficiency

To promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families.

Pyruvate carboxylase deficiency type C; variable presentation and ...

Synopsis. Triheptanoin treatment in a patient with pyruvate carboxylase deficiency (PCD) type C was associated with reduced hospitalisations, ...

Pyruvate carboxylase deficiency - VisualDx

Patients with pyruvate carboxylase deficiency develop elevated serum lactate and ammonia as newborns or infants. This metabolic acidosis may ...

Pyruvate Metabolism Disorders - Merck Manual Consumer Version

Pyruvate carboxylase is an enzyme. A lack or deficiency of this enzyme causes a very rare condition that interferes with or blocks the production of glucose ...

Pyruvate Carboxylase Deficiency | Syndromes

Clinically characterized by seizures, neuromuscular incoordination, abnormal eye movements, and poor response to visual stimuli. Other clinical features include ...

Pyruvate Carboxylase Deficiency

Pyruvate carboxylase deficiency is a rare genetic disorder characterized by a failure of the body to produce the necessary fuels for energy and ...

Clinical and Biochemical Implications of Pyruvate Carboxylase ...

Metabolic abnormalities included elevated blood concentrations of lactate, pyruvate, β-hydroxybutyrate, acetoacetate, alanine, proline and glycine, decreased ...

Molecular Characterization of Pyruvate Carboxylase Deficiency in ...

Pyruvate carboxylase (PC) is a biotinylated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate.

Pyruvate Carboxylase Deficiency: An Alleged Biochemical Cause of ...

Pyruvate carboxylase (PC) deficiency has been suggested as a biochemical cause of Leigh's disease (LD). To evaluate this hypothesis, ...

pyruvate carboxylase deficiency - De Gruyter

Pyruvate carboxylase (PC) deficiency is a rare autosomal recessive disease and provides clinics in three essential phenotypes.

Pyruvate Carboxylase Deficiency - SpringerLink

Patients with PC deficiency develop lactic acidemia due to failure of the Cori cycle. Impaired ability to maintain aspartate levels results in the disturbed ...

Treatment of pyruvate carboxylase deficiency with high doses of ...

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate. ... A patient with severe pyruvate carboxylase deficiency presented at age ...

Pyruvate carboxylase deficiency - MedLink Neurology

Pyruvate carboxylase deficiency, an inherited metabolic disorder, usually presents during infancy or early childhood with metabolic acidosis and hypoglycemia. • ...

Pyruvate Carboxylase Deficiency - Abstract - Europe PMC

Pyruvate carboxylase (PC) deficiency is characterized in most affected individuals by failure to thrive, developmental delay, recurrent seizures, and metabolic ...

PC - Pyruvate carboxylase, mitochondrial - Homo sapiens (Human)

Pyruvate carboxylase deficiency (PC deficiency) ... Leads to lactic acidosis, intellectual disability and death. It occurs in three forms: mild or ...

Pyruvate Carboxylase Deficiency (PC) - Cancer Therapy Advisor

At a Glance Pyruvate Carboxylase Deficiency (PC) is an inherited disorder of metabolism of gluconeogenesis.

Pyruvate carboxylase deficiency: mechanisms, mimics and ... - VIVO

Its deficiency causes multiorgan metabolic imbalance that predominantly manifests with lactic acidemia and neurological dysfunction at an early ...

Pyruvate Carboxylase Deficiency - MalaCards

Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and ...

Chapter 16 - Neonatal Pyruvate Carboxylase Deficiency

Pyruvate carboxylase deficiency in general causes an increase in pyruvate levels, which is subsequently converted to lactate resulting in lactic acidemia, a ...

Case Report: Prenatal neurological injury in a neonate with pyruvate ...

Background: Pyruvate carboxylase (PC) is a key enzyme for gluconeogenesis. PC deficiency (PCD) is an extremely rare autosomal recessive ...