Table 1.

Clinical, biochemical, and molecular characteristics of patients with Morquio A disease who participated in study

Patient	Age	Gender	Race, ethnicity	Country of origin	GALNS activity	Total Glycosaminoglycans	GALNS mutation	Height	Phenotype
	(years)					NR (149.4–207.9 ng/mg Cre)		(z-score)
1	12.7	Female	Caucasian	Iraq	40 pmol/mg/h	2799.55 ng/mg Cre	c.230 C > G / c.230 C > G	−7.0	Severe
					(NR 400–2000)
2	8.3	Male	Caucasian	Iraq	28 pmol/mg/h	1924.52 ng/mg Cre	c.230 C > G / c.230 C > G	−6.1	Severe
					(RR 400–2000)
3	38.4	Male	Caucasian	US	0.06 nmol/mg/h	1158.20 ng/mg Cre	c.1353 G > T / c.1353 G > T	−3.4	Attenuated
					(NV 0.95)
4	6.4	Female	Chinese	China	0.58 nmol/17 h/ mg	2266.21 ng/mg Cre	c.106_111delCTGCTC / c.953 T > G	−6.0	Severe
					(RR 42.3–441.9)
5	18.3	Male	Hispanic	Mexico	Not Available	479.51 ng/mg Cre	c.1156C > T / 32 kb del	−8.11	Severe
6	3.9	Male	Hispanic	US	Not Available	1753.43 ng/mg Cre	c.901G > T / c.1520G > T	−3.73	Severe
7	8.5	Female	Caucasian	US	Deficient	Not Available	c.239C > T /?	−6.77	Severe
8	4.6	Female	Caucasian	US	Not Available	Not Available	c.239C > T /?	−6.34	Severe
9	25.9	Male	Hispanic	US	Deficient	Qualitatively Elevated	Not Available	−6.09	Severe
10	22.2	Male	Hispanic	US	7000 U	Elevated	c.1156C > T / c.924 T > G + c.930G > C	−9.0	Severe
					(RR > 40,000)
11	10.4	Female	Hispanic / Caucasian	US	0.05 U	Qualitatively Elevated	c.776G > A / c.1520G > T	−2.23	Attenuated
					(RR > 0.7)
12	16.1	Male	Hispanic	US	0 nmol / 17 h / mg	8.4 mg/mmol Creat	c.281G > A / c.1156C > T	−4.27	Severe
					(RR > 92)	(NR < 6.5)