MOLECULAR STUDY PYRUVATE CARBOXILASE DEFICIENCY (PC GENE) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4234

Sample:	Whole blood EDTA (10 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	47 days
Information:
It is a disease of energy metabolism caused by a defect of the hepatic enzyme pyruvate carboxylase (PC), which interferes with the first step of gluconeogenesis. PC gene structure consists of 20 coding exons and 4 non-coding. PC deficiency is presented with 3 clinical phenotypes: infantile form (type A), neonatal form (Type B) and benign form (Type C). Describe the molecular basis of 8 cases (a type A, 5 types B and 2 types C) PC deficiency. Have identified eight novel mutations that represent combinations of mutations "missense", deletions, "non-sense", and substitution mutations that affects to splicing. The classical phenotypes (A, B and C) correlate poorly with the clinical course. PC promoters and coding region detects mutations in 95% of affected individuals including the most common PC mutations (p.Ala610Thr, p.Arg631Gln, and p.Ala847Val).
Links:
OMIM Entry - # 266150 - PYRUVATE CARBOXYLASE DEFICIENCY
Pyruvate Carboxylase Deficiency - GeneReviews™ - NCBI Bookshelf
OMIM Entry - - 608786 - PYRUVATE CARBOXYLASE; PC

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