Table 1.

Genotype and phenotype information of the patients included in this study

Sample ID	Gene	Nucleotide change	Protein effect	Biochemical phenotype
Patient 1	BCKDHA	c. [117delC];[117dupC]	p. [Arg40Glyfs*23];[Arg40Glnfs*11]	Classic
Patient 2	BCKDHB	c. [853C>T];[853C>T]	p. [Arg285*];[Arg285*]	Classic
Patient 3	BCKDHB	c. [646A>G];[646A>G]	p. [Arg216Gly];[Arg216Gly]	Classic
Patient 4	BCKDHA; ACADM	c. [117delC];[117delC] c. [985A>G];[985A>G]	p. [Arg40Glyfs*23];[Arg40Glyfs*23] p. [Lys329Glu];[Lys329Glu]	Classic and MCADD

Gene bank reference sequences: NM_000709.3 for BCKDHA, NM_000056.2 for BCKDHB, and NM_000016.5 for ACADM.