Table 1.

Baseline characteristics of the Dutch cohort of PA and MMA patients

	Propionic acidemia (n = 31)		Methylmalonic acidemia (n = 45)
Presentation type	Early onset	n = 15; 48%	Early onset	n = 14; 31%
	Late onset	n = 8; 26%	Late onset	n = 26; 56%
	Family testing	n = 7; 23%	Family testing	n = 5; 11%
	Unknown	n = 1; 3%
Presentation age	Early onset	6.05 ± 6.12 days	Early onset	2.07 ± 1.77 days
	Late onset	14.1 ± 22.9 years	Late onset	1.41 ± 2.74 years
	Family testing	0.07 ± 0.19 years	Family testing	0.32 ± 0.72 years
Genotype	PCCA	n = 8; 26%	MUT	n = 26; 58%
	PCCB	n = 7; 23%	MMAA	n = 8; 18%
			MMAB	n = 7; 16%
	No mutation analysis	n = 16; 52%	No mutation analysis	n = 4; 9%
Enzyme activity	0.0‐0.4 nmol/h/mg	n = 10; 32%
	0.5‐2.0 nmol/h/mg	n = 5; 16%
	Not measured	n = 16; 52%
Vitamin B12 responsiveness			Responsive	n = 21; 47%
			Not responsive	n = 24; 53%
Age at last follow‐up		19.2 ± 15.1 years		17.3 ± 12.1 years
Mortality		n = 7; 23% (4 EO, 1 LO, 2 family)		n = 2; 4% (1 LO, 1 family)

Notes: Early onset: presentation ≤28 days of life. Late onset: presentation >28 days of life. Qualitative data are expressed as number and percentage, quantitative data as mean ± SD.

Abbreviations: EO, early onset; family, family testing; LO, late onset.