Table 1. Characteristics of the 119 Omani neonates, babies and children with inborn errors of metabolism diagnosed at Sultan Qaboos University Hospital during 1998-2008 using tandem mass spectrometry.
| Disorder | No. of Patients | No. of Families | Sex (M/F) |
Family History (Y/N) |
Consang (Y/N) |
Onset of symptoms |
|
|---|---|---|---|---|---|---|---|
|
Amino Acids & Urea Cycle Disorders 54/119 (45.4%) |
MSUD | 17 | 13 | 7/10 | 11/3 | 11/2 | 1-30 days |
| Classic-PKU | 8 | 5 | 6/2 | 6/2 | 6/2 | 5 day - 4 yrs | |
| Tyrosinemia-I | 7 | 5 | 5/2 | 7/0 | 7/0 | 2 wks - 6 mos | |
| ASA | 6 | 5 | 3/3 | 5/1 | 6/0 | 1d - 20 mos | |
| BPD-PKU | 3 | 2 | 2/1 | 2/1 | 3/0 | 1- 12 days | |
| Citrullinemia | 3 | 3 | 2/1 | 3/0 | 3/0 | Day 3 of life | |
| NKHG | 3 | 2 | ½ | 2/0 | 2/0 | Day 1 of life | |
| Homocystunuria | 3 | 3 | 2/1 | 1/0 | 1/0 | 1-3 yrs | |
| Hyperornithinemia | 2 | 2 | 0/2 | 2/0 | 2/0 | 1- 5 yrs | |
| OTC deficiency | 2 | 2 | 2/0 | 1/0 | 1/0 | Day 3 of life | |
|
Organic Acid Disorders 35/119 (29.4%) |
Propionic acidemia | 14 | 11 | 9/5 | 9/5 | 11/3 | 1- 4 days |
| Isovaleric Acidemia | 10 | 7 | 3/7 | 7/2 | 6/2 | 1 d - 4 yrs | |
| MMA | 5 | 2 | 3/2 | 4/1 | 3/1 | 2 days | |
| MGA | 2 | 2 | 2/0 | 1/1 | 1/1 | 1 d - 2 mos | |
| BKT deficiency | 2 | 2 | 1/1 | 1/1 | 1/1 | 4 - 12 mos | |
| PGA | 1 | 1 | 0/1 | 1/0 | 1/0 | 30 days | |
| GA-I | 1 | 1 | 1/0 | -- | -- | 8 mos | |
|
Fatty Acid Oxidation Disorders 30/119 (25.2%) |
HMG CoA Lyase deficiency | 9 | 6 | 8/1 | 9/0 | 7/1 | 7 d - 2 yrs |
| GA-II | 8 | 4 | 5/3 | 7/1 | 5/3 | 1d - 15 mos | |
| CPT-I | 5 | 4 | 1/4 | 2/3 | 2/2 | 2d - 3 yrs | |
| VLCAD | 3 | 2 | 2/1 | 3/0 | 3/0 | 3 d - 8 yrs | |
| MCAD | 1 | 1 | 0/1 | 1/0 | 1/0 | 1 yr | |
| LCHAD | 1 | 1 | 1/0 | 1/0 | 1/0 | 3 yrs | |
| SCHAD | 1 | 1 | 0/1 | -- | -- | -- | |
| EMA | 1 | 1 | 0/1 | -- | -- | -- | |
| MCD | 1 | 1 | 1/0 | -- | -- | -- |