Key Variables for Cases Evaluated for PKUCS Follow up Study

LEGEND FOR VARIABLES LISTED IN APPENDIX

CASE ID	number
AGEDDC	Age (years) at diet discontinuation (X if never)
AGEDRS	Age (years) diet resumed (X is never)
AGEDC2	Age discontinued a second time (X if never)
CURRMF	Currently taking medical food? (Y=yes, N=no)
CURRPHE	Current phe level (mg/dl)
CURRTYR	Current tyrosine level (mg/dl)
USUALPHE	Usual phe level (current phe unless recently returned to diet, in which case this is the level prior to resuming diet)
IDCA12	6-month median phe age 5.5-6 years IDCB8 6-month median phe age 9.5-10 years
IDCB8	6-month median phe age 9.5-10 years
CIDCFU	median of all reported phe levels since age 12
MU1	Mutation
MU2	"
MCLASS1	Classification of mutation 1
MCLASS2	Classification of mutation 2
PARF	Mid-parent full scale IQ
WISC10F	10-year WISC Full scale IQ
WISC12F	12-year WISC-R Full scale IQ
VIQFU	Adult WAIS-R verbal IQ
PIQFU	" " performance IQ
FIQFU	" " full scale IQ
READFU	Adult WRAT reading
SPELLFU	" " spelling
ARITHFU	" " arithmetic

Back to Appendix B Figures and Tables

Key Variables for Cases Evaluated for PKUCS Follow up Study

Ordered by Usual Adult Phe Level

20: 17 Thursday, August 31, 2000

Phe < 16.0 mg/dL

C A S E	A G E D D C	A G E D R S	A G E D C 2	C U R R M F	C U R R P H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	CI D C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	P A R F	W I S C 1 0 F	W I S C 1 2 F	V I Q F U	P I Q F U	F I Q F U	R E A D F U	S P E L L F U	A R I T HFU
Q-04	10.0	26.0	X	Y	3.8	.	3.8	5.3	11.3	8	IVS12 NT1G>A	?	SEV	.	124	103	110	102	118	108	105	108	98
F-01	X	X	X	Y	5.0	.	5.0	4.4	13.1	8	IVS1 NT5G>T	IVS12 NT1G>A	SEV	SEV	113	102	89	103	92	99	109	110	98
E-17	14.0	28.0	X	Y	6.0	.	6.0	7.7	5.8	8	R261Q	IVS10 NT-11G>A	MOD	SEV	132	105	107	96	113	102	101	100	105
H-05	6.2	29.0	X	Y	7.7	1.52	10.0	11.9	15.5	10	IVS4 NT-1G>A	L249F	SEV	MOD	112	120	126	114	118	119	103	97	115
G-07	6.0	24.0	X	Y	10.7	1.58	10.7	7.2	39.3	21	P225T	R408W	?	SEV	.	90	.	89	96	91	105	104	98
A-08	X	X	X	Y	12.2	1.67	12.2	12.7	3.2	.	R408W	R408W	SEV	SEV	122	113	115	109	114	112	114	119	105
L-22	X	X	X	Y	14.9	1.38	14.9	13.1	12.6	14	IVS12 NT1G>A	R261Q	SEV	MOD	109	95	96	114	98	113	114	110	96
F-10	16.5	24.0	28.0	Y	1.4	0.94	15.0	11.9	16.4	13	I65T	IVS7N T1G>A	MOD	SEV	121	130	117	129	138	136	114	108	112
A-10	17.0	24.0	28.0	N	15.2	0.38	15.2	5.0	6.3	12	F39L	IVS12 NT1G>A	MOD	SEV	111	112	102	94	110	100	.	.	.
F-07	X	X	X	Y	15.3	.	15.3	9.7	10.0	14	I65T	R408W	MOD	SEV	109	104	95	104	107	106	105	108	100
L-01	6.3	30.0	X	Y	15.8	1.00	15.8	11.1	24.8	24	Y387H	DELT323	?	?	113	99	91	109	121	116	107	104	100

Phe 16.0 - 19.9 mg/dL

C A S E	A G E D D C	A G E D R S	A G E D C 2	C U R R M F	C U R R P H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	CI D C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	P A R F	W I S C 1 0 F	W I S C 1 2 F	V I Q F U	P I Q F U	F I Q F U	R E A D F U	S P E L L F U	A R I T HFU
L-27	4.8	24.0	X	Y	16.0	0.98	16.0	25.8	25.4	23	F55F SDELT	?	SEV	.	81	.	70	75	77	75	75	76	74
D-22	17.0	X	X	N	17.0	.	17.0	14.3	15.4	.	I65T	IVS12 nt1g>a	MOD	SEV	104	109	96	88	99	91	.	.	.
K-01	6.0	27.0	28.0	Y	4.2	0.80	17.0	8.2	20.7	11	IVS10 NT-11G>A	G218V	SEV	SEV	100	84	.	86	82	83	90	97	84
L-36	14.0	21.0	21.0	Y	17.4	1.59	17.4	13.3	14.6	16	R408W	R408W	SEV	SEV	100	86	90	97	110	102	103	108	96
H-02	6.0	28.0	29.0	N	17.6	0.82	17.6	10.4	14.7	.	Y216X	S273F	SEV	SEV	101	104	96	90	101	94	99	100	93
L-32	6.0	17.0	X	Y	17.8	0.87	17.8	14.2	28.2	22	A259V	G352 FSDELG	SEV	SEV	109	92	91	98	106	101	101	100	98
E-25	6.2	X	X	N	18.0	18.0	10.1	16.8	.	IVS10 NT-11G>A	IVS12 NT1G>A	SEV	SEV	106	95	87	86	98	89	97	100	96
L-25	6.0	23.0	23.3	Y	1.7	1.83	18.0	16.5	29.5	23	T81P	F39L	SEV	MOD	100	111	98	83	108	91	90	87	89
E-27	5.9	X	X	N	19.0	19.0	10.9	19.4	.			.	.	113	.	119	112	116	116	107	110	129
I-12	X	X	X	Y	19.1	1.56	19.1	10.2	10.0	16	R408W	IVS12 NT1G>A	SEV	SEV	113	101	97	94	102	97	97	106	89
L-07	8.0	27.0	X	Y	19.6	.	19.6	13.0	17.3	25	F299C	R408W	SEV	SEV	100	115	112	119	126	126	112	104	108
L-30	X	X	X	Y	19.6	1.03	19.6	6.8	13.7	18	IVS10 NT-11G>A	I65T	SEV	MOD	113	105	97	105	102	103	103	102	93
D-26	10.0	X	X	?	19.8	.	19.8	12.3	20.5	.	R408W	R408W	SEV	SEV	102	107	103	97	96	97	.	.	.
L-03	13.7	X	X	N	19.8	0.80	19.8	13.4	16.6	20	Y277D	R408W	MLD	SEV	101	107	97	103	108	105	.	.	.
K-09	15.0	X	X	N	19.9	0.72	19.9	8.2	11.3	13	L48S	IVS10 NT-11G>A	MLD	SEV	108	109	.	95	98	96	94	104	89
H-15	6.0	24.0	25.0	N	19.9	0.45	19.9	13.0	30.2	17	P281L	IVS12 NT1G>A	SEV	SEV	107	107	100	93	91	91	107	102	98
T-04	6.7	X	X	N	19.9	0.62	19.9	20.4	29.8	.	L194P	R408W	SEV	SEV	105	83	.	79	70	74	97	100	91

Back to Appendix B Figures and Tables

Phe 20.0 - 23.9 mg/dL

C A S E	A G E D D C	A G E D R S	A G E D C 2	C U R R M F	C U R RP H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	C I D C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	PAR F	WI S C 1 0 F	W I S C 1 2F	VIQ FU	P I Q F U	FI Q F U	R EA D F U	S P E LL F U	A R I T H F U
S-07	6.4	X	X	N	20.1	0.65	20.1	9.4	26.1	23	Y356X	P281L	SEV	SEV	127	107	101	97	110	102	99	106	93
A-03	6.0	X	X	N	20.9	0.63	20.9	14.5	25.5	27	R158Q	R408W	SEV	SEV	114	92	.	83	74	77	90	97	91
F-02	12.0	X	X	N	21.0	.	21.0	20.6	21.7	20	I65T	R408W	MOD	SEV	115	83	79	86	78	80	97	104	93
E-31	5.9	X	X	N	21.6	0.69	21.6	16.6	23.2	.	E280K	R261Q	SEV	MOD	111	112	106	104	95	100	109	102	100
H-03	6.0	X	X	N	21.6	0.71	21.6	9.3	24.5	23	DELI9	IVS10 NT-11G>A	MLD	SEV	105	70	70	74	72	72	73	70	79
L-13	6.1	30.0	X	Y	21.8	2.52	21.8	11.8	21.9	23	R252W	P281L	SEV	SEV	104	93	91	98	116	105	103	102	84
E-15	6.0	X	X	N	22.0	.	22.0	8.5	21.6	.	I65T	R408W	MOD	SEV	129	112	112	112	110	112	94	123	110
L-18	X	X	X	Y	22.6	0.56	22.6	8.2	11.9	17	IVS12 NT1G>A	IVS12 NT1G>A	SEV	SEV	100	117	105	128	108	123	105	106	104
T-01	6.0	12.0	12.0	N	22.8	0.89	22.8	13.7	32.3	.	R158Q	R408W	SEV	SEV	.	104	93	84	89	84	79	74
A-02	6.1	12.0	X	Y	23.0	.	23.0	11.6	26.0	.	R408W	R408W	SEV	SEV	96	94	69	79	84	79	.	.	74
N-02	6.0	X	X	N	23.5	1.00	23.5	18.4	26.4	.	F39L	IVS12 NT1G>A	MOD	SEV	103	104	.	94	94	94	107	106	93

Phe 24.0 - 27.9 mg/dL

C A S E	A G E D D C	A G E D R S	A G E D C 2	C U R R M F	C U R RP H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	C I D C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	PAR F	WI S C 1 0 F	W I S C 1 2F	VIQ FU	P I Q F U	FI Q F U	R EA D F U	S P E LL F U	A R I T H F U
E-08	6.0	X	X	N	24.0	.	24.0	13.2	37.9	.			.	.	102	80	80	72	77	73	.	.
N-03	15.0	30.0	X	Y	13.5	0.62	24.0	23.7	24.0	.	I65T	Y414X	MOD	SEV	87	.	62	72	74	72	44	44	44
K-17	6.8	8.0	24.0	N	24.6	0.76	24.6	8.9	19.4	17	R158Q	R408W	SEV	SEV	111	95	109	99	101	99	105	110	93
E-05	6.0	23.0	24.0	Y	25.0	.	25.0	14.0	29.2	24	IVS12 NT1G>A	R408W	SEV	SEV	116	83	92	87	93	87	88	89	89
E-22	6.0	X	X	N	25.0	.	25.0	17.1	25.1	.	IVS12 NT1G>A	IVS12NT1G>A	SEV	SEV	128	96	.	97	93	95	101	102	129
Q-03	6.5	X	X	N	25.0	.	25.0	12.0	23.9	.			.	.	114	105	104	88	95	89	94	95	96
N-09	7.9	X	X	N	25.7	0.92	25.7	14.0	23.4	.	L15/S 16FS DELCT	E221 D222 FSDE LAG	SEV	SEV	106	.	105	88	89	87	103	106	93
E-11	6.0	X	X	N	25.8	0.71	25.8	15.0	25.0	.	Y356X	R408W	SEV	SEV	100	104	102	94	112	100	94	85	89
S-01	6.0	X	X	N	25.8	.	25.8	16.1	25.0	17	R252Q	IVS10 NT-11G>A	SEV	SEV	97	.	.	82	89	83	90	76	81
E-30	6.0	X	X	N	26.0	.	26.0	15.8	23.9	.		.	.	92	115	107	88	104	94	84	91	96
L-10	7.9	14.0	18.0	N	26.3	0.83	26.3	5.5	21.8	22	Y277D	Y204C	MLD	SEV	113	111	115	116	108	114	109	106	110
R-03	10.0	X	X	N	26.4	.	26.4	10.1	26.0	26			.	.	.	75	67	68	79	72	54	55	53
L-35	X	X	N	27.9	0.60	27.9	13.5	12.4	21	E280K	DELE 2/IVS2 NT1	SEV	SEV	75	83	85	88	81	83	.	.	.

Back to Appendix B Figures and Tables

Phe >= 28.0 mg/dL

C A S E	A G E D D C	A G E D R S	A G E D C 2	C U R R M F	C U R R P H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	C ID C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	PAR F	WI S C 1 0 F	W I S C 1 2F	VIQ FU	P I Q F U	FI Q F U	R EA D F U	S P E LL F U	A R I T H F U
I-16	20.0	24.0	24.0	N	28.3	0.71	28.3	7.0	14.0	16	G272X	R408W	SEV	SEV	114	.	110	101	98	99	103	102	103
T-05	14.5	X	X	N	29.1	0.96	29.1	12.4	19.2	.	G272X	R408W	SEV	SEV	118	101	.	103	93	98	114	112	105
E-02	6.0	X	X	N	30.0	.	30.0	11.5	28.8	.			.	.	116	115	115	102	96	99	116	106	105
N-04	6.4	X	X	N	30.0	.	30.0	15.6	30.9	.			.	.	96	95	.	91	85	87	92	87	81
Q-06	6.1	X	X	N	30.0	1.23	30.0	10.2	37.8	25	I65T	?	MOD	.	82	88	81	79	87	80	90	95	91
I-17	12.0	X	X	Y	32.5	1.07	32.5	8.2	6.0	26	L213P	R408W	?	SEV	114	.	.	104	142	124	107	95	96
E-26	6.0	X	X	N	32.7	0.87	32.7	20.2	31.8	.			.	.	96	67	70	71	77	73	60	55	55
A-05	6.0	X	X	N	34.0	1.70	34.0	10.3	27.8	27	R408W	G272X	SEV	SEV	116	99	91	.	.	.	.	.	.
H-14	6.0	X	X	N	34.6	1.12	34.6	21.0	27.5	20	R408W	R158Q	SEV	SEV	102	90	89	86	93	87	90	89	79
N-08	6.1	X	X	N	35.0	.	35.0	19.6	35.0	.			.	.	97	.	71	.	.	.	.	.	.
S-05	6.7	7.0	15.0	N	37.4	0.98	37.4	12.5	18.4	26	P281L	R408W	SEV	SEV	106	72	80	82	78	78	114	110	70
A-13	12.0	X	X	N	37.5	0.87	37.5	10.9	16.6	25	I65T	A246F SDELC	MOD	SEV	103	88	.	81	81	79	84	85	93
K-03	5.9	10.0	21.0	Y	40.0	1.81	40.0	10.8	26.5	20	P281L	IVS10 NT-11G>A	SEV	SEV	108	102	85	88	93	88	107	110	98
N-07	6.1	X	X	N	40.0	.	40.0	6.5	40.8	.			.	.	124	.	80	.	.	.	92	.	.
E-20	6.8	15.0	16.5	N	40.9	1.92	40.9	10.1	27.3	18			.	.	118	9	92	86	104		82	85	79

Back to Appendix B Figures and Tables

Phe < 16.0 mg/dL

C A S E	A G E D D C	A G E D RS	A G E D C 2	C U R R M F	CURR PHE	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	CI D C F U	M U 1	M U 2	MC L A S S 1	M CL A S S 2	PAR F	W IS C 1 0 F	WISC 12F	VIQFU	PIQF U	FIQF U	R E A DF U	S P E L LF U	A R I T HFU
Q-04	10.0	26.0	X	Y	3.8	.	3.8	5.3	11.3	8	IVS12 NT1G>A	?	SEV	.	124	103	110	102	118	108	105	108	98
F-01	X	X	X	Y	5.0	.	5.0	4.4	13.1	8	IVS1 NT5G>T	IVS12 NT1G>A	SEV	SEV	113	102	89	103	92	99	109	110	98
E-17	14.0	28.0	X	Y	6.0	.	6.0	7.7	5.8	8	R261Q	IVS10 NT-11G>A	MOD	SEV	132	105	107	96	113	102	101	100	105
H-05	6.2	29.0	X	Y	7.7	1.52	10.0	11.9	15.5	10	IVS4 NT-1G>A	L249F	SEV	MOD	112	120	126	114	118	119	103	97	115
G-07	6.0	24.0	X	Y	10.7	1.58	10.7	7.2	39.3	21	P225T	R408W	?	SEV	.	90	.	89	96	91	105	104	98
A-08	X	X	X	Y	12.2	1.67	12.2	12.7	3.2	.	R408W	R408W	SEV	SEV	122	113	115	109	114	112	114	119	105
L-22	X	X	X	Y	14.9	1.38	14.9	13.1	12.6	14	IVS12 NT1G>A	R261Q	SEV	MOD	109	95	96	114	98	113	114	110	96
F-10	16.5	24.0	28.0	Y	1.4	0.94	15.0	11.9	16.4	13	I65T	IVS7 NT1G>A	MOD	SEV	121	130	117	129	138	136	114	108	112
A-10	17.0	24.0	28.0	N	15.2	0.38	15.2	5.0	6.3	12	F39L	IVS1 2NT1G>A	MOD	SEV	111	112	102	94	110	100	.	.	.
F-07	X	X	X	Y	15.3	.	15.3	9.7	10.0	14	I65T	R408W	MOD	SEV	109	104	95	104	107	106	105	108	100
L-01	6.3	30.0	X	Y	15.8	1.00	15.8	11.1	24.8	24	Y387H	DELT323	?	?	113	99	91	109	121	116	107	104	100

Phe 16.0 - 19.9 mg/dL

C A S E	A G E D D C	A G E D RS	A G E D C 2	C U R R M F	CURR PHE	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	CI D C F U	M U 1	M U 2	MC L A S S 1	M CL A S S 2	PAR F	W IS C 1 0 F	WISC 12F	VIQFU	PIQF U	FIQF U	R E A DF U	S P E L LF U	A R I T HFU
L-27	4.8	24.0	X	Y	16.0	0.98	16.0	25.8	25.4	23	F55F SDELT	?	SEV	.	81	.	70	75	77	75	75	76	74
D-22	17.0	X	X	N	17.0	.	17.0	14.3	15.4	.	I65T	IVS12 nt1g>a	MOD	SEV	104	109	96	88	99	91	.	.	.
K-01	6.0	27.0	28.0	Y	4.2	0.80	17.0	8.2	20.7	11	IVS1 0NT-11G>A	G218V	SEV	SEV	100	84	.	86	82	83	90	97	84
L-36	14.0	21.0	21.0	Y	17.4	1.59	17.4	13.3	14.6	16	R408W	R408W	SEV	SEV	100	86	90	97	110	102	103	108	96
H-02	6.0	28.0	29.0	N	17.6	0.82	17.6	10.4	14.7	.	Y216X	S273F	SEV	SEV	101	104	96	90	101	94	99	100	93
L-32	6.0	17.0	X	Y	17.8	0.87	17.8	14.2	28.2	22	A259V	G352 FSDELG	SEV	SEV	109	92	91	98	106	101	101	100	98
E-25	6.2	X	X	N	18.0	.	18.0	10.1	16.8	.	IVS1 0NT-11G>A	IVS12 NT1G>A	SEV	SEV	106	95	87	86	98	89	97	100	96
L-25	6.0	23.0	23.3	Y	1.7	1.83	18.0	16.5	29.5	23	T81P	F39L	SEV	MOD	100	111	98	83	108	91	90	87	89
E-27	5.9	X	X	N	19.0	.	19.0	10.9	19.4	.			.	.	113	.	119	112	116	116	107	110	129
I-12	X	X	X	Y	19.1	1.56	19.1	10.2	10.0	16	R408W	IVS12 NT1G>A	SEV	SEV	113	101	97	94	102	97	97	106	89
L-07	8.0	27.0	X	Y	19.6	.	19.6	13.0	17.3	25	F299C	R408W	SEV	SEV	100	115	112	119	126	126	112	104	108
L-30	X	X	X	Y	19.6	1.03	19.6	6.8	13.7	18	IVS1 0NT-11G>A	I65T	SEV	MOD	113	105	97	105	102	103	103	102	93
D-26	10.0	X	X	?	19.8	.	19.8	12.3	20.5	.	R408W	R408W	SEV	SEV	102	107	103	97	96	97	.	.	.
L-03	13.7	X	X	N	19.8	0.80	19.8	13.4	16.6	20	Y277D	R408W	MLD	SEV	101	107	97	103	108	105	.	.	.
K-09	15.0	X	X	N	19.9	0.72	19.9	8.2	11.3	13	L48S	IVS10 NT-11G>A	MLD	SEV	108	109	.	95	98	96	94	104	89
H-15	6.0	24.0	25.0	N	19.9	0.45	19.9	13.0	30.2	17	P281L	IVS12 NT1G>A	SEV	SEV	107	107	100	93	91	91	107	102	98
T-04	6.7	X	X	N	19.9	0.62	19.9	20.4	29.8	.	L194P	R408W	SEV	SEV	105	83	.	79	70	74	97	100	91

Back to Appendix B Figures and Tables

Phe 20.0 - 23.9 mg/dL

C A S E	A G E D D C	A G E D R S	A G E D C 2	C U R R M F	C U R R P H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	C ID C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	PAR F	W I S C 1 0 F	W I S C 1 2 F	VIQ FU	P I Q F U	FI Q F U	R EA D F U	S P E LL F U	A R I T H F U
S-07	6.4	X	X	N	20.1	0.65	20.1	9.4	26.1	23	Y356X	P281L	SEV	SEV	127	107	101	97	110	102	99	106	93
A-03	6.0	X	X	N	20.9	0.63	20.9	14.5	25.5	27	R158Q	R408W	SEV	SEV	114	92	.	83	74	77	90	97	91
F-02	12.0	X	X	N	21.0	.	21.0	20.6	21.7	20	I65T	R408W	MOD	SEV	115	83	79	86	78	80	97	104	93
E-31	5.9	X	X	N	21.6	0.69	21.6	16.6	23.2	.	E280K	R261Q	SEV	MOD	111	112	106	104	95	100	109	102	100
H-03	6.0	X	X	N	21.6	0.71	21.6	9.3	24.5	23	DELI94	IVS10 NT-11G>A	MLD	SEV	105	70	70	74	72	72	73	70	79
L-13	6.1	30.0	X	Y	21.8	2.52	21.8	11.8	21.9	23	R252W	P281L	SEV	SEV	104	93	91	98	116	105	103	102	84
E-15	6.0	X	X	N	22.0	.	22.0	8.5	21.6	.	I65T	R408W	MOD	SEV	129	112	112	112	110	112	94	123	110
L-18	X	X	X	Y	22.6	0.56	22.6	8.2	11.9	17	IVS12 NT1G>A	IVS12 NT1G>A	SEV	SEV	100	117	105	128	108	123	105	106	104
T-01	6.0	12.0	12.0	N	22.8	0.89	22.8	13.7	32.3	.	R158Q	R408W	SEV	SEV	.	104	93	84	89	84	79	74	74
A-02	6.1	12.0	X	Y	23.0	.	23.0	11.6	26.0	.	R408W	R408W	SEV	SEV	96	94	69	79	84	79	.	.	.
N-02	6.0	X	X	N	23.5	1.00	23.5	18.4	26.4	.	F39L	IVS12 NT1G>A	MOD	SEV	103	104	.	94	94	94	107	106	93

Phe 24.0 - 27.9 mg/dL

C A S E	A G E D D C	A G E D R S	A G E D C 2	C U R R M F	C U R R P H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	C ID C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	PAR F	W I S C 1 0 F	W I S C 1 2 F	VIQ FU	P I Q F U	FI Q F U	R EA D F U	S P E LL F U	A R I T H F U
E-08	6.0	X	X	N	24.0	.	24.0	13.2	37.9	.			.		102	80	80	77	73	.	.	.
N-03	15.0	30.0	X	Y	13.5	0.62	24.0	23.7	24.0	.	I65T	Y414X	MOD	SEV	87	.	62	72	74	72	44	44	44
K-17	6.8	8.0	24.0	N	24.6	0.76	24.6	8.9	19.4	17	R158Q	R408W	SEV	SEV	111	95	109	99	101	99	105	110	93
E-05	6.0	23.0	24.0	Y	25.0	.	25.0	14.0	29.2	24	IVS12 NT1G>A	R408W	SEV	SEV	116	83	92	87	93	87	88	89	89
E-22	6.0	X	X	N	25.0	.	25.0	17.1	25.1	.	IVS12 NT1G>A	IVS12 NT1G>A	SEV	SEV	128	96	.	97	93	95	101	102	129
Q-03	6.5	X	X	N	25.0	.	25.0	12.0	23.9	.			.	.	114	105	104	88	95	89	94	95	96
N-09	7.9	X	X	N	25.7	0.92	25.7	14.0	23.4	.	L15/ S16F SDEL CT	E221 D222 FSDE LAG	SEV	SEV	106	.	105	88	89	87	103	106	93
E-11	6.0	X	X	N	25.8	0.71	25.8	15.0	25.0	.	Y356X	R408W	SEV	SEV	100	104	102	94	112	100	94	85	89
S-01	6.0	X	X	N	25.8	.	25.8	16.1	25.0	17	R252Q	IVS1 0NT- 11G>A	SEV	SEV	97	.	.	82	89	83	90	76	81
E-30	6.0	X	X	N	26.0	.	26.0	15.8	23.9	.			.	.	92	115	107	88	104	94	84	91	96
L-10	7.9	14.0	18.0	N	26.3	0.83	26.3	5.5	21.8	22	Y277D	Y204C	MLD	SEV	113	111	115	116	108	114	109	106	110
R-03	10.0	X	X	N	26.4	.	26.4	10.1	26.0	26			.	.	75	67	68	79	72	54	55	53
L-35	18.0	X	X	N	27.9	0.60	27.9	13.5	12.4	21	E280K	DELE 2/IVS2NT1	SEV	SEV	75	83	85	88	81	83	.	.	.

Back to Appendix B Figures and Tables

Phe >= 28.0 mg/dL

C A S E	A G E D D C	A G E D R S	A G E D C 2	C U R R M F	C U R R P H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	C ID C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	PAR F	WI S C 1 0 F	W I S C 1 2F	VIQ FU	P I Q F U	FI Q F U	R EA D F U	S P E LL F U	A R I T H F U
I-16	20.0	24.0	24.0	N	28.3	0.71	28.3	7.0	14.0	16	G272X	R408W	SEV	SEV	114	.	110	101	98	99	103	102	103
T-05	14.5	X	X	N	29.1	0.96	29.1	12.4	19.2	.	G272X	R408W	SEV	SEV	118	101	.	103	93	98	114	112	105
E-02	6.0	X	X	N	30.0	.	30.0	11.5	28.8	.			.	.	116	115	115	102	96	99	116	106	105
N-04	6.4	X	X	N	30.0	.	30.0	15.6	30.9	.			.	.	96	95	.	91	85	87	92	87	81
Q-06	6.1	X	X	N	30.0	1.23	30.0	10.2	37.8	25	I65T	?	MOD	.	82	88	81	79	87	80	90	95	91
I-17	12.0	X	X	Y	32.5	1.07	32.5	8.2	6.0	26	L213P	R408W	?	SEV	114	.	.	104	142	124	107	95	96
E-26	6.0	X	X	N	32.7	0.87	32.7	20.2	31.8	.			.	.	96	67	70	71	77	73	60	55	55
A-05	6.0	X	X	N	34.0	1.70	34.0	10.3	27.8	27	R408W	G272X	SEV	SEV	116	99	91	.	.	.	.	.	.
H-14	6.0	X	X	N	34.6	1.12	34.6	21.0	27.5	20	R408W	R158Q	SEV	SEV	102	90	89	86	93	87	90	89	79
N-08	6.1	X	X	N	35.0	.	35.0	19.6	35.0	.			.	.	97	.	71	.	.	.	.	.	.
S-05	6.7	7.0	15.0	N	37.4	0.98	37.4	12.5	18.4	26	P281L	R408W	SEV	SEV	106	72	80	82	78	78	114	110	70
A-13	12.0	X	X	N	37.5	0.87	37.5	10.9	16.6	25	I65T	A246F SDELC	MOD	SEV	103	88	.	81	81	79	84	85	93
K-03	5.9	10.0	21.0	Y	40.0	1.81	40.0	10.8	26.5	20	P281L	IVS10 NT-11G>A	SEV	SEV	108	102	85	88	93	88	107	110	98
N-07	6.1	X	X	N	40.0	.	40.0	6.5	40.8	.			.	.	124	.	80	.	.	.	.	.	.
E-20	6.8	15.0	16.5	N	40.9	1.92	40.9	10.1	27.3	18			.	.	118	99	92	86	104	92	82	85	79

Back to Appendix B Figures and Tables

<= 6.5 years

CASE	A G E D D C	A G E D R S	A G E D C 2	C U R R M F	CURR P H E	C U R R T Y R	US U ALPHE	I D C A 1 2	I D C B 8	CI D C F U	M U 1	M U 2	MC L A S S 1	M CL A S S 2	PARF	W IS C 1 0 F	W I S C 1 2 F	V I Q F U	P I Q F U	F I QF U	R E A DF U	S P E L LF U	A R ITHFU
L-27	4.8	24.0	X	Y	16.0	0.98	16.0	25.8	25.4	23.4	F55F SDELT	?	SEV	.	81	.	70	75	77	75	75	76	74
E-31	5.9	X	X	N	21.6	0.69	21.6	16.6	23.2	.	E280K	R261Q	SEV	MOD	111	112	106	104	95	100	109	102	100
E-27	5.9	X	X	N	19.0	.	19.0	10.9	19.4	.			.	.	113	.	119	112	116	116	107	110	129
K-03	5.9	10.0	21.0	Y	40.0	1.81	40.0	10.8	26.5	20.4	P281L	IVS10 NT-11G>A	SEV	SEV	108	102	85	88	93	88	107	110	98
E-15	6.0	X	X	N	22.0	.	22.0	8.5	21.6	.	I65T	R408W	MOD	SEV	129	112	112	112	110	112	94	123	110
E-30	6.0	X	X	N	26.0	.	26.0	15.8	23.9	.			.	.	92	115	107	88	104	94	84	91	96
G-07	6.0	24.0	X	Y	10.7	1.58	10.7	7.2	39.3	21.3	P225T	R408W	?	SEV	.	90	.	89	96	91	105	104	98
E-08	6.0	X	X	N	24.0	.	24.0	13.2	37.9	.			.	.	102	80	80	72	77	73	.	.	.
E-05	6.0	23.0	24.0	Y	25.0	.	25.0	14.0	29.2	24.3	IVS1 2NT1G>A	R408W	SEV	SEV	116	83	92	87	93	87	88	89	89
K-01	6.0	27.0	28.0	Y	4.2	0.80	17.0	8.2	20.7	10.8	IVS1 0NT-11G>A	G218V	SEV	SEV	100	84	.	86	82	83	90	97	84
H-02	6.0	28.0	29.0	N	17.6	0.82	17.6	10.4	14.7	.	Y216X	S273F	SEV	SEV	101	104	96	90	101	94	99	100	93
L-25	6.0	23.0	23.3	Y	1.7	1.83	18.0	16.5	29.5	23.1	T81P	F39L	SEV	MOD	100	111	98	83	108	91	90	87	89
H-15	6.0	24.0	25.0	N	19.9	0.45	19.9	13.0	30.2	17.2	P281L	IVS12 NT1G>A	SEV	SEV	107	107	100	93	91	91	107	102	98
H-03	6.0	X	X	N	21.6	0.71	21.6	9.3	24.5	23.3	DELI94	IVS10 NT-11G>A	MLD	SEV	105	70	70	74	72	72	73	70	79
N-02	6.0	X	X	N	23.5	1.00	23.5	18.4	26.4	.	F39L	IVS12 NT1G>A	MOD	SEV	103	104	.	94	94	94	107	106	93
E-22	6.0	X	X	N	25.0	.	25.0	17.1	25.1	.	IVS1 2NT1G>A	IVS12 NT1G>A	SEV	SEV	128	96	.	97	93	95	101	102	129
E-11	6.0	X	X	N	25.8	0.71	25.8	15.0	25.0	.	Y356X	R408W	SEV	SEV	100	104	102	94	112	100	94	85	89
S-01	6.0	X	X	N	25.8	.	25.8	16.1	25.0	17.1	R252Q	IVS10 NT-11G>A	SEV	SEV	97	.	.	82	89	83	90	76	81
E-02	6.0	X	X	N	30.0	.	30.0	11.5	28.8	.			.	.	116	115	115	102	96	99	116	106	105
E-26	6.0	X	X	N	32.7	0.87	32.7	20.2	31.8	.			.	.	96	67	70	71	77	73	60	55	55
A-05	6.0	X	X	N	34.0	1.70	34.0	10.3	27.8	27.2	R408W	G272X	SEV	SEV	116	99	91	.	.	.	.	.	.
H-14	6.0	X	X	N	34.6	1.12	34.6	21.0	27.5	20.0	R408W	R158Q	SEV	SEV	102	90	89	86	93	87	90	89	79
T-01	6.0	12.0	12.0	N	22.8	0.89	22.8	13.7	32.3	.	R158Q	R408W	SEV	SEV	.	104	93	84	89	84	79	74	74
A-03	6.0	X	X	N	20.9	0.63	20.9	14.5	25.5	27.2	R158Q	R408W	SEV	SEV	114	92	.	83	74	77	90	97	91
L-32	6.0	17.0	X	Y	17.8	0.87	17.8	14.2	28.2	22.0	A259V	G352 FSDELG	SEV	SEV	109	92	91	98	106	101	101	100	98
L-13	6.1	30.0	X	Y	21.8	2.52	21.8	11.8	21.9	23.3	R252W	P281L	SEV	SEV	104	93	91	98	116	105	103	102	84
A-02	6.1	12.0	X	Y	23.0	.	23.0	11.6	26.0	.	R408W	R408W	SEV	SEV	96	94	69	79	84	79	.	.	.
N-07	6.1	X	X	N	40.0	.	40.0	6.5	40.8	.			.	.	124	.	80	.	.	.	.	.	.
Q-06	6.1	X	X	N	30.0	1.23	30.0	10.2	37.8	25.1	I65T	?	MOD	.	82	88	81	79	87	80	90	95	91

Back to Appendix B Figures and Tables

C A S E	A G E D D C	A G E D R S	AGEDC2	C U R R M F	C U R R P H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	C ID C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	PAR F	WI S C 1 0 F	W I S C 1 2F	VIQ FU	P I Q F U	FI Q F U	R EA D F U	S P E LL F U	A R I T H F U
N-08	6.1	X	X	N	35.0	.	35.0	19.6	35.0	.			.	.	97	.	71	.	.	.	.	.	.
H-05	6.2	29.0	X	Y	7.7	1.52	10.0	11.9	15.5	9.9	IVS4 NT-1G>A	L24 9F	SEV	MOD	112	120	126	114	118	119	103	97	115
E-25	6.2	X	X	N	18.0	.	18.0	10.1	16.8	.	IVS1 0NT-11G>A	IVS12 NT1G>A	SEV	SEV	106	95	87	86	98	89	97	100	96
L-01	6.3	30.0	X	Y	15.8	1.00	15.8	11.1	24.8	23.9	Y387H	DELT323	?	?	113	99	91	109	121	116	107	104	100
S-07	6.4	X	X	N	20.1	0.65	20.1	9.4	26.1	23.0	Y356X	P281L	SEV	SEV	127	107	101	97	110	102	99	106	93
N-04	6.4	X	X	N	30.0	.	30.0	15.6	30.9	.			.	.	96	95	.	91	85	87	92	87	81
Q-03	6.5	X	X	N	25.0	.	25.0	12.0	23.9	.			.	.	114	105	104	88	95	89	94	95	96

6.6 - 12.5 years

C A S E	A G E D D C	A G E D R S	AGEDC2	C U R R M F	C U R R P H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	C ID C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	PAR F	WI S C 1 0 F	W I S C 1 2F	VIQ FU	P I Q F U	FI Q F U	R EA D F U	S P E LL F U	A R I T H F U
S-05	6.7	7.0	15.0	N	37.4	0.98	37.4	12.5	18.4	25.8	P281L	R408W	SEV	SEV	106	72	80	82	78	78	114	110	70
T-04	6.7	X	X	N	19.9	0.62	19.9	20.4	29.8	.	L194P	R408W	SEV	SEV	105	83	.	79	70	74	97	100	91
K-17	6.8	8.0	24.0	N	24.6	0.76	24.6	8.9	19.4	17.1	R158Q	R408W	SEV	SEV	111	95	109	99	101	99	105	110	93
E-20	6.8	15.0	16.5	N	40.9	1.92	40.9	10.1	27.3	18.4				.	118	99	92	86	104	92	82	85	79
L-10	7.9	14.0	18.0	N	26.3	0.83	26.3	5.5	21.8	22.4	Y277D	Y204C	.M LD	SEV	113	111	115	116	108	114	109	106	110
N-09	7.9	X	X	N	25.7	0.92	25.7	14.0	23.4	.	L15/S 16FS DELCT	E221 D222 FSDELAG	SEV	SEV	106	.	105	88	89	87	103	106	93
L-07	8.0	27.0	X	Y	19.6	.	19.6	13.0	17.3	25.1	F299C	R408W	SEV	SEV	100	115	112	119	126	126	112	104	108
D-26	10.0	X	X	?	19.8	.	19.8	12.3	20.5	.	R408W	R408W	SEV	SEV	102	107	103	97	96	97	.	.	.
Q-04	10.0	26.0	X	Y	3.8	.	3.8	5.3	11.3	7.9	IVS1 2NT1G>A	?	SEV	.	124	103	110	102	118	108	105	108	98
R-03	10.0	X	X	N	26.4	.	26.4	10.1	26.0	26.4			.	.	.	75	67	68	79	72	54	55	53
F-02	12.0	X	X	N	21.0	.	21.0	20.6	21.7	20.4	I65T	R408W	MOD	SEV	115	83	79	86	78	80	97	104	93
I-17	12.0	X	X	Y	32.5	1.07	32.5	8.2	6.0	26.2	L213P	R408W	?	SEV	114	.	.	104	142	124	107	95	96
A-13	12.0	X	X	N	37.5	0.87	37.5	10.9	16.6	25.1	I65T	A246 FSDELC	MOD	SEV	103	88	.	81	81	79	84	85	93

12.6 - 20.0 year

C A S E	A G E D D C	A G E D R S	AGEDC2	C U R R M F	C U R R P H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	C ID C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	PAR F	WI S C 1 0 F	W I S C 1 2F	VIQ FU	P I Q F U	FI Q F U	R EA D F U	S P E LL F U	A R I T H F U
L-03	13.7	X	X	N	19.8	0.80	19.8	13.4	16.6	19.8	Y277D	R408W	MLD		SEV	101	107	97	103	108	105	.	.
E-17	14.0	28.0	X	Y	6.0	.	6.0	7.7	5.8	8.2	R261Q	IVS1 0NT-11G>A	MOD	SEV	132	105	107	96	113	102	101	100	105
L-36	14.0	21.0	21.0	Y	17.4	1.59	17.4	13.3	14.6	16.0	R408W	R408W	SEV	SEV	100	86	90	97	110	102	103	108	96
T-05	14.5	X	X	N	29.1	0.96	29.1	12.4	19.2	.	G272X	R408W	SEV	SEV	118	101	.	103	93	98	114	112	105
K-09	15.0	X	X	N	19.9	0.72	19.9	8.2	11.3	13.0	L48S	IVS10 NT-11G>A	MLD	SEV	108	109	.	95	98	96	94	104	89
N-03	15.0	30.0	X	Y	13.5	0.62	24.0	23.7	24.0	.	I65T	Y414X	MOD	SEV	87	.	62	72	74	72	44	44	44
F-10	16.5	24.0	28.0	Y	1.4	0.94	15.0	11.9	16.4	13.2	I65T	IVS7 NT1G>A	MOD	SEV	121	130	117	129	138	136	114	108	112

Back to Appendix B Figures and Tables

C A S E	A G E D D C	A G E D R S	AGEDC2	C U R R M F	C U R R P H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	C ID C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	PAR F	WI S C 1 0 F	W I S C 1 2F	VIQ FU	P I Q F U	FI Q F U	R EA D F U	S P E LL F U	A R I T H F U
A-10	17.0	24.0	28.0	N	15.2	0.38	15.2	5.0	6.3	12.4	F39L	IVS12 NT1G>A	MOD	SEV	111	112	102	94	110	100	.	.	.
D-22	17.0	X	X	N	17.0	.	17.0	14.3	15.4	.	I65T	IVS12 nt1g>a	MOD	SEV	104	109	96	88	99	91	.	.	.
L-35	18.0	X	X	N	27.9	0.60	27.9	13.5	12.4	21.3	E280K	DELE 2/IVS2NT1	SEV	SEV	75	83	85	88	81	83	.	.	.
I-16	20.0	24.0	24.0	N	28.3	0.71	28.3	7.0	14.0	16.0	G272X	R408W	SEV	SEV	114	.	110	101	98	99	103	102	103

Never discontinued

C A S E	A G E D D C	A G E D R S	AGEDC2	C U R R M F	C U R R P H E	C U R R T Y R	U S U A L P H E	I D C A 1 2	I D C B 8	C ID C F U	M U 1	M U 2	M C L A S S 1	M C L A S S 2	PAR F	WI S C 1 0 F	W I S C 1 2F	VIQ FU	P I Q F U	FI Q F U	R EA D F U	S P E LL F U	A R I T H F U
F-07	X	X	X	Y	15.3	.	15.3	9.7	10.0	14.0	I65T	R408W	MOD	SEV	109	104	95	104	107	106	105	108	100
L-30	X	X	X	Y	19.6	1.03	19.6	6.8	13.7	17.6	IVS10 NT-11G>A	I65T	SEV	MOD	113	105	97	105	102	103	103	102	93
L-22	X	X	X	Y	14.9	1.38	14.9	13.1	12.6	13.5	IVS1 2NT1G>A	R261Q	SEV	MOD	109	95	96	114	98	113	114	110	96
I-12	X	X	X	Y	19.1	1.56	19.1	10.2	10.0	16.1	R408W	IVS1 2NT1G>A	SEV	SEV	113	101	97	94	102	97	97	106	89
L-18	X	X	X	Y	22.6	0.56	22.6	8.2	11.9	16.8	IVS1 2NT1G>A	IVS1 2NT1G>A	SEV	SEV	100	117	105	128	108	123	105	106	104
A-08	X	X	X	Y	12.2	1.67	12.2	12.7	3.2	.	R408W	R408W	SEV	SEV	122	113	115	109	114	112	114	119	105
F-01	X	X	X	Y	5.0	.	5.0	4.4	13.1	8.3	IVS1 NT5G>T	IVS1 2NT1G>A	SEV	SEV	113	102	89	103	92	99	109	110	98

Back to Appendix B Figures and Tables

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