Table 1 Results of α‐AASA and PA measurements.

Patient	Sibling	Birth year	PDS (Baxter criteria)	α‐AASA urine (mmol/mol cr)	α‐AASA plasma (μmol/l)	PA urine (mmol/mol cr)	PA plasma (μmol/l)	PDS (confirmed metabolically)
1	5	1991	Possible	16	8.0	0.11	6.5	Y
2		1992	Definite	4.7	0.9	0.27	5.8	Y
3	7	1992	Definite	29	5.7	0.00	4.6	Y
4	6	1992	Definite	4.0	1.1	0.02	7.0	Y
5	1	1993	Possible	24	5.0	0.11	5.0	Y
6	4	1994	Probable	0.2	<0.2	0.02	2.2	N
7	3	1995	Probable	20	5.8	0.01	5.1	Y
8		1998	Possible	12	2.4	0.07	5.5	Y
9		2001	Definite	9.6	0.8	2.0	22	Y
10	12	2003	Probable	39	6.1	0.08	7.8	Y
11		2003	Possible	NA	NA	NA	NA	N
12	10	2004		75	5.2	1.37	11	Y

N, no; NA, not available; Y, yes.

Control α‐AASA concentrations are <0.2 μmol/l for plasma and <1 mmol/mol creatinine for urine.

Control values for PA in urine are 0.55–24.1 mmol/mol creatinine (<6 months of age) and 0.01–1.54 mmol/mol creatinine (>6 months of age).

For PA in plasma, control values are 3.75–10.8 μmol/l (<1 week of age), and 0.7–2.46 μmol/l (>1 week of age).