Table 2.

Characteristics of 12 Patients Receiving a Diagnosis of Menkes Disease as Asymptomatic Newborns.^*

Variable	Age at First Treatment	ATP7A Mutation	Serum Copper†	Urinaryβ2-Microglobulin‡	Age	Untreated Relatives
Patient
	days		mmol/liter	mg/liter	yr
1	7	2757delAG	18.9±1.6	11.1	Died at 1.6	Brother with severe delays died at 3.1 yr
2	14	Del ex1	8.1±1.2	5.3	8.6	Brother with severe delays died at 7 yr
3	8	Del ex7–19	13.8±8.2	27.4	8.1	Brother with severe delays died at 9 mo
4	22	G666R	17.9±5.9	34.5	8.0	Maternal uncle with severe delays died at 14 yr
5	8	IVS9,DS,+6T→G	17.6±3.2	28.0	7.2	Brother with severe delays alive at 8 yr
6	5	3936/7delT	15.9±8.3	36.6	6.8	Brother with severe delays died at 1 yr
7	10	3060delT	12.8±1.5	Not measured	4.6	Two half-brothers with severe delays died at 1.5 yr and 3 yr
8	10	G666R	19.1±2.7	60.9	5.2	First cousin with severe delays alive at 7 yr
9	10	4246del15	14.1±3.3	1.2	2.9	Brother with severe delays died at 3 yr
10	12	Q1385X	9.5±4.8	4.9	2.0	Maternal uncle with severe delays died at 3.2 yr
11	10	3060delT	4.8±1.7	3.5	1.8	Two half-brothers with severe delays died at 1.5 yr and 3 yr
12§	7	Del ex20–23	17.0±0.4	49.2	1.5	Brother with severe delays died at 1.3 yr
Reference range, infants			11.0–23.6	0.0–0.3
Infants with untreated Menkes disease			1.6–8.3

^*Plus–minus values are means ±SD. Serum copper and urinary β₂-microglobulin were measured while the patients were receiving copper treatment. Del denotes deletion, and ex exon.

^†To convert values for copper to micrograms per deciliter, divide by 157.4.

^‡The maximum measured concentrations of urinary β₂-microglobulin are shown. To convert values to nanomoles per liter, multiply by 84.75.

^§At 4 months of age, while receiving copper treatment, this patient had a serious adverse event (a small-bowel infarct) that was deemed unrelated to the research and from which he recovered fully.