Pyruvate kinase deficiency - Wikipedia - pyruvate adult ataxia

Category

pyruvate adult ataxia - Pyruvate Dehydrogenase Complex Deficiency - NORD (National Organization for Rare Disorders)


Pyruvate dehydrogenase complex deficiency (PDCD) is a rare disorder of carbohydrate metabolism caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex (PDC). The age of onset and severity of disease depends on the activity level of the PDC enzymes. Pyruvate dehydrogenase deficiency can have different inheritance patterns. When the condition is caused by mutations in the PDHA1 gene, it is inherited in an X-linked pattern. The PDHA1 gene is located on the X chromosome, which is one of the two sex chromosomes.

INTRODUCTION. Cerebellar ataxia is a common finding in patients seen in neurologic practice and has a wide variety of causes [].Although cerebellar degeneration may be chronic and slowly progressive, acute cerebellar swelling due to infarction, edema, or hemorrhage can have rapid and catastrophic effects and is a true neurological emergency. Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recent comprehensive analysis of the natural history and Cited by: 170.

The diagnostic approach to adult onset ataxias should be systematic and guided by the history and examination. Non-genetic ataxias may involve an extensive and expensive evaluation that may be done in a tiered fashion. MSA-C is the most common sporadic ataxia. ILOCA is a diagnosis of exclusion. A positive familial history signals a genetic. Pyruvate carboxylase (PCC) Propionyl-CoA carboxylase (PCCA) α-methylcrotonyl-CoA carboxylase (MCCC1) Acetyl-CoA carboxylase (ACACA) BTD Holocarboxylase: Covalently binding biotin to apocarboxylases Adult-onset Ataxia in some patients.

Pyruvate carboxylase deficiency (PC deficiency) is a rare genetic disorder present at birth characterized by failure to thrive, developmental delay, recurrent seizures and a failure of the body to produce the necessary fuels for energy and neurotransmitters important for brain function. Pyruvate kinase deficiency is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. Both autosomal dominant and recessive inheritance have been observed with the disorder; classically, and more commonly, the inheritance is autosomal recessive.Pyruvate kinase deficiency is the second most common cause of enzyme-deficient hemolytic anemia Diagnostic method: Physical exam, CBC.