Skip to main content

Table 2 Characteristics of 30 patients with genetic metabolic disorders

From: Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support

Patient characteristics

N(%)

Gender

 

Male

14(47)

Female

16(53)

Age groups

 

0-5 years

8(27)

6-10 years

11(37)

11-15 years

7(23)

>15 years

4(13)

Diagnosis

 

Lysosomal Storage Disease

18(60)

Mitochondrial disease

12(40)

Ethnicity

 

Caucasian

17(57)

Asian

5(17)

Middle Eastern

5(17)

Other

2( 7)

Country of Birth

 

Australia

28(93)

Malaysia

2( 7)

Has at least one sibling

25(83)

Other family members affected by the same rare disease

12(40)