Table 4 Characteristics of patients with variants in PCCA and PCCB genes

Onset age (months), median (range)

1.5 (0.03–24)

–

6.0 (0.07–42)

–

0.164

Age at the last follow-up (months), median (range)

33 (2–228)

–

36 (2–180)

–

0.807

Gender (male)

16

66.7

19

55.9

0.408

Disease type (early onset^a)

12

50.0

11

32.4

0.176

Hyperammonemia

9

0.38

16

47.1

0.469

Metabolites at diagnosis, median (range)

 Blood propionylcarnitine (μmol/L)

11.4 (4.2–22.5)

–

13.7 (4.4–49.2)

–

0.534

 Blood glycine (μmol/L)

358.6 (146.0–1042.0)

–

423.4 (134.6–2933.1)

–

0.530

 Urine methylcitrate (mmol/mmol Cr)

23.4 (0.3–1139.1)

–

20.0 (2.4–136.5)

–

0.742

 Urine 3-hydroxypropionic acid (mmol/mmol Cr)

25.7 (0.1–1041.8)

–

26.9 (1.5–841.3)

–

0.888

Neurological involvement

 Intellectual disability

15

62.5

21

61.8

0.955

 Seizures

12

50.0

13

38.2

0.373

 Hearing impairment^b

2

8.3

1

2.9

0.756

Skin lesion

5

20.8

13

38.2

0.158

Hematological abnormalities^c

6

25.0

19

55.9

0.019

Intermittent vomiting

6

25.0

12

35.3

0.404

Liver involvement^d

5

20.8

9

26.5

0.621

Cardiac involvement^e

3

12.5

1

2.9

0.374

Renal dysfunction^f

1

4.2

1

2.9

1.000

Death

4

16.7

5

14.7

1.000