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Table 1 Characteristics and audiological results of 13 patients with GA-1

From: Audiological and otologic manifestations of glutaric aciduria type I

Case no

Sex

Age

Age at treatment initiation

Clinical presentation

OAE

Audiogram

Hearing grading

Newborn hearing screening

Encephalo-pathic crisis

Macro-cephaly

Disability score

ICU admission

1

F

2

8 days

Asymptomatic

P/A

SF

Mild

Pass

No

N/A

3

Yes

2

M

2

6 days

Asymptomatic

P/P

SF

Slight

pass

No

No

3

No

3

M

3

8 days

Asymptomatic

P/P

SF

Slight

Pass

Yes

Yes

3

Yes

4

F

3

8 days

Dystonia/NG feeding

A/P

ABR

Mild

Pass

Yes (4 m)

No

8

Yes

5

F

9

9 days

Seizure, developmental delay

B/P

SRT

Mild

Pass

No

No

6

No

6

F

3

8 days

Seizure

P/P

SF

Moderate

Pass

Yes

Yes

5

Yes

7

F

4

8 days

Asymptomatic

P/B

PTA

Slight

Pass

No

No

3

Yes

8

M

7

6 days

Asymptomatic

 

PTA

WNL

Pass

No

Yes

3

No

9

F

11

9 days

Mild developmental delay

B/B

PTA

Slight

Pass

No

Yes

4

No

10

F

16

1 months

Very mild involuntary movement and unstable gait

B/B

PTA

WNL

Pass

No

Yes

3

No

11

F

11

10 days

Optic atrophy, developmental delay

B/B

PTA

Slight

Pass

No

Yes

3

No

12

F

7

7 days

Asymptomatic

B/B

PTA

Slight

Pass

No

No

3

No

13

F

26

12 years

Asymptomatic

P/P

PTA

WNL

Nil

No

No

4

Yes

  1. B broad intact, P partial loss, A absent, SF sound field, PTA pure tone audiogram, SRT speech recognition test, ABR auditory brainstem response