Research Article
Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia
Table 2
Follow-up, treatment, and outcome of GSD1a Malaysians patients.
| | Pt No | Age at last follow-up (yrs) | Short stature (<2SD for age and sex) | Uncooked corn starch (g/kg/feed) | Allopurinol use | Blood lactate, mmol/L (ref <2) | Uric acid, µmol/L (ref <400) | Triglyceride, mmol/L (ref <1.7) | Proteinuria (ref <3.5 mg/mmol creat) | Multiple liver focal lesions (ultrasonography) |
| | 1 | 4 | N | 1.3 | y | 6.2 | 344 | 5.3 | N | N | | 2 | 12 | Y | 0.3 | y | 3.56 | 500 | 15.2 | Y | N | | 3 | 3 | N | 1 | Y | 4.81 | 531 | 13.7 | N | N | | 4 | 17 | Y | N | N | 17.6 | 443 | 8.5 | ND | Y | | 5 | ND | ND | ND | ND | ND | ND | ND | ND | ND | | 6 | 6 | Y | 1.6 | y | 10.9 | 150 | 21.5 | N | N | | 7 | 25 | Y | N | Y | 3.67 | 318 | 8.3 | N | Y | | 8 | 2 | Y | 1.3 | N | 3.1 | 300 | 6.4 | N | N | | 9 | 3 | N | 0.7 | N | 4.1 | 247 | 5.7 | N | N | | 10 | 1 | N | 0.6 | N | 4.8 | 279 | 3.6 | N | N | | 11 | ND | ND | ND | ND | ND | ND | ND | ND | ND | | 12 | 12 | Y | 1 | Y | 6.6 | 540 | 8.6 | N | N | | 13 | 18 | Y | 0.5 | Y | 5.2 | 570 | 3.3 | Y | N |
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Abbreviations. N, no; ND, not determined; SD, standard deviation; Y, yes.
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