Article
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
American journal of medical genetics. Part A - 15 Nov 2004
Cameron Jessie M, Levandovskiy Valeriy, Mackay Neviana, Tein Ingrid, Robinson Brian H
Abstract excerpt
Pyruvate dehydrogenase (PDH)-complex deficiency (OMIM 312170) is a clinically heterogeneous disorder, with phenotypes ranging from fatal lactic acidosis (LA) in the newborn to chronic neurological dysfunction. To date, over 80 different mutations have been identified in the PDHA1 gene in patients with PDH complex deficiency, which are thus thought to contribute to the PDH deficient phenotype. We have identified...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Child
- DNA Mutational Analysis
- Female
- Genetic Variation
- Genotype
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Phenotype
- Pyruvate Dehydrogenase (Lipoamide)
- Pyruvate Dehydrogenase Complex Deficiency Disease
- Sequence Homology, Amino Acid