|
TABLE 1 - COMMON
GENETIC AND METABOLIC DISEASES
The common diseases are listed, in descending order of
frequency, and total approximately 80 per cent of each
category
|
| Disease |
Number (%) |
Disease |
Number(%) |
Disease |
Number (%) |
| Lymsosomal3 storage
diseases(N=324) |
|
Carbohydrate & lipid
disorders (N=156) |
|
Organic acidaemias2(N=455) |
|
| Niemann
Pick disease |
51 (16%) |
Glycogen
storage disease T.3 |
31 (20%) |
Methylmalonic
acidaemia |
76 (17%) |
| Morquio's disease |
35 (11%) |
Fructose diphosphatase
deficiency |
27 (18%) |
Propionic acidaemia
|
63 (14%) |
| Sandhoff's
disease |
31 (10%)
|
Glycogen
storage disease T.1 |
22 (14%)
|
Biotinidase
deficiency |
41 (9%) |
| Multiple
sulphase deficiency (Saudi variant) |
27 (8%) |
Galactosemia
|
20 (13%)
|
Canavan's
disease |
41 (9%) |
| Galactosialidosis
|
25 (8%) |
Hypercholesterolaemia
Type I |
20 (13%)
|
Fatty acid
oxidation defects |
36 (8%) |
| Hurler-Scheie disease
|
24 (8%) |
Aminoacidaemias (N=253)
|
|
3-Methylglutaconic aciduria
|
32 (7%) |
| Gaucher's disease |
20
(6%) |
Maple
syrup urine disease |
75
(30%) |
HMG
CoA lyase deficiency |
25
(5%) |
| Neuronal ceroid lipofuscinosis
|
16 (5%) |
Classic PKU |
47 (19%) |
Pyruvate carboxylase
deficiency |
20 (4%) |
| Hunter syndrome |
16 ( 5%) |
Homocystinuria |
43 (17%) |
Glutaric aciduria type
I |
20 (4%) |
| Sanfilippo syndromes
|
15 (5%) |
6-PTS deficient PKU5
|
24 (10%) |
Isovaleric acidaemia
|
15
(3%) |
|
|
Non-ketotic hyperglycinaemia
|
12 (5%) |
Unique genetic syndromes
(N=60) |
|
|
|
|
|
Sanjad-Sakati syndrome
|
40 (60%) |
|
|
|
|
Al-Aqeel Sewairi syndrome
|
20 (30%) |
