Table 1. Biochemical findings and... | American Society of Hematology

Table 1.

Biochemical findings and mutations of ALAD in 5 subjects with inherited ALAD deficiency

Subject		German 1^*7 44	German 2^†7 44	Belgian9 28	Swedish 1⁸	Swedish 2¹¹
Sex		Male	Male	Male	Male	Female
Age of onset		15	15	63	At birth	At birth
Disease		Moderate	Moderate	Mild	Severe	None
Mutations of ALAD	Allele 1	A274³	V153M¹²	G133R/K59N²⁹	G133R⁴	F12L¹¹
	Allele 2	R240W³	delTC¹³	None²⁹	V275M⁴	None¹¹
Biochemical assay		% of normal	% of normal	% of normal	% of normal	% of normal
Plasma	ALA	—	—	1155	—	—
	PBG	—	—	Normal	—	—
	Coproporphyrin	300	167	—	—	—
	Protoporphyrin	127	327	—	—	—
Urine	ALA	2449	2373	794	8150	163
	PBG	238	200	Normal	447	Normal
	Uroporphyrin	361	224	888	—	—
	Coproporphyrin	5380	4698	2987	—	200
	Total porphyrin	—	—	—	7247	—
Stool	Coproporphyrin	Normal	Normal	285	284	Normal
	Protoporphyrin	Normal	Normal	300	Normal	Normal
Erythrocytes	Protoporphyrin	3192	3164	408	663	300
	ALAD activity	0	1	1	1	12
	PBGD activity	Normal	Normal	Normal	Normal	Normal

Subject		German 1^*7 44	German 2^†7 44	Belgian9 28	Swedish 1⁸	Swedish 2¹¹
Sex		Male	Male	Male	Male	Female
Age of onset		15	15	63	At birth	At birth
Disease		Moderate	Moderate	Mild	Severe	None
Mutations of ALAD	Allele 1	A274³	V153M¹²	G133R/K59N²⁹	G133R⁴	F12L¹¹
	Allele 2	R240W³	delTC¹³	None²⁹	V275M⁴	None¹¹
Biochemical assay		% of normal	% of normal	% of normal	% of normal	% of normal
Plasma	ALA	—	—	1155	—	—
	PBG	—	—	Normal	—	—
	Coproporphyrin	300	167	—	—	—
	Protoporphyrin	127	327	—	—	—
Urine	ALA	2449	2373	794	8150	163
	PBG	238	200	Normal	447	Normal
	Uroporphyrin	361	224	888	—	—
	Coproporphyrin	5380	4698	2987	—	200
	Total porphyrin	—	—	—	7247	—
Stool	Coproporphyrin	Normal	Normal	285	284	Normal
	Protoporphyrin	Normal	Normal	300	Normal	Normal
Erythrocytes	Protoporphyrin	3192	3164	408	663	300
	ALAD activity	0	1	1	1	12
	PBGD activity	Normal	Normal	Normal	Normal	Normal

Patient B in the original report.7 44 Absolute values of biochemical assays were reported in the original articles.

Patient H in the original report.7 44