Table 5.

Primary Carnitine Deficiency: Gender, Genotype and Outcome in Cases Detected by Newborn Screening

Case #	Gender	Genotype	Age at Testing or When Last Seen	DQ/IQ	Developmental Concerns
1	Female	c.1193C>T (p.P398L)/c.424G>T (p.A142S) and c.1463G>A (p.R488H) (cis)	3 yrs 2 mo	–	None noted
2	Female	c.51C>G (p.F17L)/c.51C>G (p.F17L)	15 mo	120 (DQ)	Motor delay
3	Male	c.839C>T (p.S280F)/c.424G>T (p.A142S)and c.1463G>A (p.R488H) (cis)	6 mo	–	None noted
4	Male	c.641C>T (p.A214V) c.629A>G (p.N210S)	3 yrs 5 mo	105	Speech/language and motor delays
5	Female	c.424G>T (p.A142S) and c.1463G>A (p.R488H) (cis)/unknown second mutation	22 mo	–	None noted
6	Female	R399W/IVS3c.653-2A>C	4 yr 2 mo	113	None noted
7	Female	Not available	4 yr 2 mo	–	None noted