. Author manuscript; available in PMC: 2018 Nov 1.

Published in final edited form as: Mol Genet Metab. 2017 Sep 19;122(3):99–107. doi: 10.1016/j.ymgme.2017.09.008

Table 1.

Patient demographics and baseline biochemical parameters

Patient/Gender	Genotype		Age at ERT initiation (month s)	Current age^* (years )	Cardiac assessment	CK (N 70–320 U/L)	ALT (N 5–40 U/L)	AST (N 15–41 U/L)	ALP (N 24–170 U/L)	Urinary Glc₄ (≤8.3 mmol/mol creatinine)
Patient/Gender	Allele 1	Allele 2	Age at ERT initiation (month s)	Current age^* (years )	Cardiac assessment	CK (N 70–320 U/L)	ALT (N 5–40 U/L)	AST (N 15–41 U/L)	ALP (N 24–170 U/L)	Urinary Glc₄ (≤8.3 mmol/mol creatinine)
1/M	c.-32-13T>G	c.525delT	1.0	4.0	PFO	378	26	45	211	3.7
2/M	c.-32-13T>G	c.525delT	1.2	2.0	PFO and LVH	359	41	33	239	4.5
3/F	c.-32-13T>G;	c.2188G>T	9.0	1.2	WNL	605	198	139	248	7.3
4/F	c.-32-13T>G	c.-32-13T>G	No ERT	1.1	WNL	366	NA	NA	NA	4.8
5/F	c.-32-13T>G	c.-32-13T>G	No ERT	0.4	WNL	174	27	36	352	4.1
6/M	c.-32-13T>G	c.-32-13T>G	No ERT	0.7	PFO	176	30	90	249	2.6
7/F	c.-32-13T G	c.-32-13T>G	No ERT	0.7	PFO	125	37	53	174	NA

Duke Metabolic Clinic; CK, Creatine Kinase; ALT, Alanine aminotransferase, AST, Aspartate aminotransferase; ALP, Alkaline phosphatase; Glc₄, Glucose tetra saccharide; PFO, Patent Foramen Ovale; LVH, Left Ventricular Hypertrophy; WNL, Within Normal Limits; NA, Not Available

Age as of March 2017