Table 2.

Clinical outcomes for patients with propionic acidemia.

Age at presentation/diagnosis	Age at last evaluation	Clinical presentation	Hospitalization	Long-term complication
Identified by newborn screening (7 cases)
Neonate	13 years	Asymptomatic	Yes, Cardiac arrest	Cardiac related sudden death at age 13
Neonate	9 years	Asymptomatic	None	Asymptomatic
Neonate	5 years	Asymptomatic	Yes, Metabolic decompensation	Prolonged QT arrhythmia
Neonate	4 years	Asymptomatic	None	Seizure, precipitated by illness
Neonate	3 years	Asymptomatic	None	Asymptomatic
Neonate	2 years	Asymptomatic	None	Asymptomatic
Neonate	6 months	Asymptomatic	None	Asymptomatic
Identified by clinical presentation (7 cases)
5 years	26 years	Metabolic decompensation	Yes, Metabolic decompensation	Seizure disorder, Movement disorder, Learning difficulties
3 years	24 years	Metabolic decompensation	Yes, Metabolic decompensation, cardiomyopathy	Cardiomyopathy
8 years	11 years	Seizures, Learning difficulties	None	Seizure disorder, Learning difficulties
8 months	10 years	Metabolic decompensation, Seizures	Yes, Metabolic decompensation	Movement disorder, Learning difficulties, Poor weight gain
5 years	5 years	Poor weight gain	None	Poor weight gain
23 month	2 years	Metabolic decompensation	Yes, Metabolic decompensation	Seizures, Movement disorder
6 months	2 years	Metabolic decompensation, Poor weight gain	Yes, Metabolic decompensation	Asymptomatic
Identified by family history (6 cases)
18 months	21 years	Poor weight gain	Yes, Metabolic decompensation	Asymptomatic
Neonate	20 years	Asymptomatic	Yes, Seizures and cardiomyopathy	Seizure disorder, Cardiomyopathy, Prolonged QT arrhythmia
19 years	20 years	Learning difficulties, Poor weight gain	None	Learning difficulties, Poor weight gain
24 months	17 years	Asymptomatic	None	Seizure disorder, Cardiomyopathy, Prolonged QT arrhythmia
1 month	14 years	Asymptomatic	None	Cardiomyopathy
3 years	12 years	Asymptomatic	None	Asymptomatic