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Metabolic Disorders Laboratory
The 100th Milestone
Our experience with the first 102 cases tested
Total number of patients screened – 102
Number of cases that necessitated confirmation - 27
Sample distribution by age:
< 1 year |
1 – 5 years |
5 – 12 years |
40 |
34 |
26 |
One patient was aged 52 years and was evaluated for alcaptonuria, another patient was 23 years old and was evaluated for Hereditary Fructose Intolerance. Oldest patient was aged 52 years (evaluated for alcaptonuria) and youngest patient was aged 4 days (evaluated for unexplained hyperbilirubinemia).
Sample Distribution by symptomatology:
Symptoms |
Number with confirmed IEM |
Diagnosis |
| With seizures / convulsions only: 19 | 0 |
NA |
| With seizures / delayed milestones: 38 | 0 |
NA |
| With sepsis, seizures and early cataracts: 4 | 2 |
Galactosemia |
| With sepsis only: 6 | 0 |
NA |
| With hyperbilirubinemia only: 3 | 0 |
NA |
| With coarse facial features, mental retardation: 7 | 2 |
Mucopolysaccharidoses |
| With failure to thrive only: 15 | 0 |
NA |
| With failure to thrive & hyperbilirubinemia: 3 | 0 |
NA |
| With hepatomegaly, cirrhosis and failure to thrive: 2 | 1 |
Tyrosinemia |
| With hepatomegaly and cataract:2 | 2 |
Hereditary Fructose Intolerance |
| With failure to thrive, alopecia, skin rashes: 1 | 1 |
Biotinidase deficiency |
Disorders confirmed |
Number of patients |
Methodology |
| Hereditary fructose intolerance | 2 |
Chromatography, Enzyme assays |
| Galactosemia | 2 |
Chromatography, Quantitation, Enzyme assays |
| Mucopolysaccharidoses | 2 |
Chromatography, Quantitation / Speciation, Enzyme assay |
| Biotinidase | 1 |
Enzyme assay |
| Tyrosinemia | 1 |
Quantitation |
| Zinc Deficiency | 1 |
Quantitation |
| Organic acidemia | 1 |
Chromatography |
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