Table 2.

Characteristics of patients with carnitine–acylcarnitine translocase deficiency with c.199-10T>G mutation.

Patient	Sex	Country	Gene variant	Age of onset	Symptom	Outcome	References
1	F	China	c.199-10T>G Homozygous variant	61 days	Hepatic dysfunction and hypoglycemia	Died of respiratory insufficiency and cardiac arrest 61 days after birth	This report
2	M	China	c.199-10T>G+c.120delT Heterozygous variant	36 h	Seizures and respiratory insufficiency	Died of respiratory failure at 37 months	Stanley et al. (7)
3	F	China	c.199-10T>G+c.326delG Heterozygous variant	27 h	Lethargy, feeding difficulties	Died 31 h after birth	Chalmers et al. (8)
4	F	Vietnam	c.199-10T>G Homozygous variant	2 days	Hypoglycemia	Died of respiratory arrest 6 months after birth	Hammond et al. (9) Costa et al. (10)
5	M	Vietnam	c.199-10T>G Homozygous variant	Within 3 days	Hypoglycemia and hypopnea	Sudden death (unknown time)	Costa et al. (10)
6	M	Vietnam	c.199-10T>G Homozygous variant	Within 3 days	Unknown	Sudden death 2 months after birth	Costa et al. (10)
7	M	Japan	c.199-10T>G+c.576G>A Heterozygous variant	2 days	Respiratory insufficiency	Died at 33 months after birth	Fukushima et al. (11)
8	M	Hong Kong, China	c.199-10T>G Homozygous variant	41 h	Cardiac arrest	Died of cardiac arrest 3 days after birth	Lam et al. (12) Lee et al. (13)
9	F	Hong Kong, China	c.199-10T>G Homozygous variant	32 h	Cardiac arrest	Still alive and followed up for 32 months after birth	Lee et al. (13)
10	M	Hong Kong, China	c.199-10T>G Homozygous variant	28 h	Respiratory insufficiency and cardiomyopathy	Died of cardiac arrest 38 h after birth	Lee et al. (13)
11	M	Thailand	c.199-10T>G Homozygous variant	10 h	Hypothermia followed by cardiac arrest 60 h after birth	Died of upper gastrointestinal bleeding and metabolic disorders at the age of 2 years and 8 months	Vatanavicharn et al. (6)
12	F	Thailand	c.199-10T>G Homozygous variant	2 days	Lethargy, difficulty feeding, and cardiac arrest	Died of cardiac arrest 4 months after birth	Vatanavicharn et al. (6)
13	M	China	c.199-10T>G Homozygous variant	25 min	Hypoglycemia, apnea, and seizures	Died of cardiac arrest 78 h after birth	Yan et al. (3)
14	F	China	c.199-10T>G+C.1A>G	52 h	Hypoglycemia and hypotension	Died of heart failure 6 days after birth	Yan et al. (3)
15	M	China	c.199-10T>G Homozygous variant	2 days	Hypoglycemia	Died of heart failure 3 days after birth	Fan et al. (14)
16	M	China	c.199-10T>G Homozygous variant	1.5 days	Hypoglycemia, seizures, and apnea	Died of heart failure 2 days after birth	Fan et al. (14)
17	M	China	c.199-10T>G Homozygous variant	3 days	Hypoglycemia	Sudden death 4 days after birth	Fan et al. (14)
18	F	China	c.199-10T>G Homozygous variant	30 days	Hypoglycemia	Sudden death 30 days after birth	Fan et al. (14)
19	M	China	c.199-10T>G/c.719-8_c.719-1dupCCCCACAG	1 days	Hypoglycemia	Died 3 days after birth from cardiogenic shock with malignant ventricular arrhythmia and pulmonary hemorrhage	Fan et al. (14)
20	F	China	c.199-10T>G/c.719-8_c.719-1dupCCCCACAG	1 day	Hypoglycemia	Died of cardiac arrest 8 days after birth	Tang et al. (15)
21	M	China	c.199-10T>G Homozygous variant	3 days	Hypoglycemia	Sudden death 2 months after birth	Tang et al. (15)
22	F	China	c.199-10T>G Homozygous variant	2 days	Lethargy	Died of cardiac arrest 3 days after birth	Tang et al. (15)
23	M	China	c.199-10T>G Homozygous variant	2 days	Lethargy and hypotonia	Died of respiratory distress and arrhythmia	Tang et al. (15)
24	F	China	c.199-10T>G Homozygous variant	2 days	Lethargy and hypoglycemia	Died of cardiac arrest 3 days after birth	Tang et al. (15)
25	M	China	c.199-10T>G Homozygous variant	2 days	Hypoglycemia, lethargy, and hypotonia	Died of heart failure 4 days after birth	Liu et al. (16)
26	M	China	c.199-10T>G Homozygous variant	3 days	Lethargy and cyanosis	Died of arrhythmia and heart failure 3 days after birth	Liu et al. (16)

F, female; M, male.