Diseases of branched-chain amino acid catabolism

Vergano SAS. Inborn Errors of Metabolism: Becoming Ready for Rare. Pediatr Rev. 2022 Jul 01;43(7):371–83. doi: 10.1542/pir.2022-005088. PMID: 35773536.; Neinast M, Murashige D, Arany Z. Branched Chain Amino Acids. Annu. Rev. Physiol. 2019 Feb 10;81(1):139–64. doi: 10.1146/annurev-physiol-020518-114455.; Holecek M. Branched-chain amino acids in health and disease: metabolism, alterations in blood plasma, and as supplements. Nutrition & Metabolism. 2018 May 03;15(1):33. doi: 10.1186/s12986-018-0271-1.; Mak CM, Lee HH, Chan AY, Lam C. Inborn errors of metabolism and expanded newborn screening: review and update. Critical Reviews in Clinical Laboratory Sciences. 2013 Nov;50(6):142–62. doi: 10.3109/10408363.2013.847896.; Fisher CR, Chuang JL, Cox RP, Fisher CW, Star RA, Chuang DT. Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex. J Clin Invest. 1991 Sep;88(3):1034–7. PMID: 1885764; PMCID: PMC295513.

Metabolites

H+

Formula: H (1.0078246)

CAS ID: 12408-02-5

H2O

Formula: H2O (18.0105642)

CAS ID: 7732-18-5

HCO3-

Formula: HCO3 (60.9925696)

CAS ID: 71-52-3

Manganese(2+)

Formula: Mn (54.938046)

CAS ID: 7439-96-5

Potassium cation

Formula: K (38.963708)

CAS ID: 24203-36-9

ATP(4-)

Formula: C10H12N5O13P3 (502.9644492)

CAS ID:

thiamine(1+) diphosphate(3-)

Formula: C12H16N4O7P2S (422.0214926)

CAS ID:

NAD(1-)

Formula: C21H26N7O14P2 (662.1012936000001)

CAS ID: 53-84-9



Enzyme

EC Number name full name note
1.2.4.4 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) 3-methyl-2-oxobutanoate:[dihydrolipoyllysine-residue (2-methylpropanoyl)transferase]-lipoyllysine 2-oxidoreductase (decarboxylating, acceptor-2-methylpropanoylating)
1.8.1.4 dihydrolipoyl dehydrogenase protein-N6-(dihydrolipoyl)lysine:NAD+ oxidoreductase
2.3.1.168 dihydrolipoyllysine-residue (2-methylpropanoyl)transferase 2-methylpropanoyl-CoA:enzyme-N6-(dihydrolipoyl)lysine S-(2-methylpropanoyl)transferase
2.7.11.1 non-specific serine/threonine protein kinase ATP:protein phosphotransferase (non-specific)
2.7.11.4 [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase ATP:[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphotransferase
3.1.3.16 protein-serine/threonine phosphatase protein-serine/threonine-phosphate phosphohydrolase
3.1.3.52 [3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)]-phosphatase [3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)]-phosphate phosphohydrolase
6.4.1.4 methylcrotonoyl-CoA carboxylase 3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)


Proteins

Protein ID name full name