“Propionic Acidemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 丙酸血症。(PCCB).

INTRODUCTION.

Propionic acidemia is an autosomal recessive metabolic disorder, classified as an organic acidemia. A list of organic acidemia disorders is shown BELOW.

Organic Acidemia  Disorders.

1. Propionic acidemia

2. 4-Hydroxybutyric aciduria.
3. Methylmalonic acidemia.
4. Cobalamin C, D, F, G diseases; methylmalonic aciduria and variable homocystinuria.
5. The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3).
6. Multiple carboxylase deficiency/holocarboxylase synthetase deficiency.
7. Multiple carboxylase deficiency/biotinidase deficiency.
8. Isovaleric acidemia.
9. Glutaric aciduria (type I).
10. 3-MethylcrotonylCoA carboxylase deficiency/3Methylcrotonylglycinuria. 

11. D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria.
12. L-2-hydroxyglutaric aciduria.

Propionic acidemia type-2 is caused by mutation in the gene encoding propionyl-CoA carboxylase beta (PCCB), and Enzyme Commission number EC# 6.4.1.3 classification.

There is evidence propionic acidemia type-2 is caused by mutation in the PCCB gene on cytogenetic location 3q22.3 and genomic coordinates 3:136,250,340-136,330,169. The screenshot of the PCCB gene 79,830 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides PCCB in the 3q22.3 cytogenetic location are listed BENEATH. 

Coordinate	Symbol	Genomic Name
3:134,599,923	KY	Kyphoscoliosis peptidase
3:134,795,260	EPHB1	eph tyrosine kinase 2 (ephrin receptor EphB1)
3:135,965,728	PP2R3A	Protein phosphatase 2, subunit B”, alpha
3:136,148,917	MSL2	MSL complex subunit 2
3:136,250,340	PCCB	Propionyl Coenzyme A carboxylase, beta
3:136,336,236	STAG1	Stromal antigen 1
3:136,819,126	SLC35G2	Solute carrier family 35, member G2
3:136,862,208	NCK	Non-catalytic region of tyrosine kinase
3:136,957,983	IL20RB	Interleukin 20 receptor, beta
3:137,764,315	SOX14	SRY-box 14