Table 4.
Age Distributions for the Common Inherited Metabolic Diseases
| Citrin deficiency | MSUD | OTCD | MMA | PA | MADD | CUD | HPA | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Time period | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) | n | (%) |
| Newborn | 12 | 10 | 15 | 45 | 18 | 43 | 71 | 30 | 20 | 36 | 6 | 8 | 3 | 11 | 0 | 0 |
| 1–6 months | 86 | 71 | 3 | 9 | 2 | 5 | 50 | 21 | 7 | 13 | 3 | 4 | 4 | 14 | 18 | 5 |
| 6 months–1 year | 18 | 15 | 6 | 18 | 4 | 10 | 45 | 19 | 10 | 18 | 2 | 3 | 7 | 25 | 68 | 21 |
| 1–3 years | 3 | 2 | 5 | 15 | 11 | 26 | 32 | 14 | 13 | 24 | 4 | 5 | 6 | 21 | 108 | 33 |
| 3–6 years | 1 | 1 | 1 | 3 | 4 | 10 | 14 | 6 | 3 | 5 | 2 | 3 | 4 | 14 | 58 | 18 |
| 6–12 years | 1 | 1 | 0 | 0 | 2 | 5 | 8 | 3 | 2 | 4 | 9 | 11 | 2 | 7 | 55 | 17 |
| 12–18 years | 0 | 0 | 0 | 0 | 1 | 2 | 4 | 2 | 0 | 0 | 13 | 16 | 1 | 4 | 15 | 5 |
| >18 years | 0 | 0 | 3 | 9 | 0 | 0 | 9 | 4 | 0 | 0 | 40 | 51 | 1 | 4 | 9 | 3 |
| Total | 121 | 100 | 33 | 100 | 42 | 100 | 233 | 100 | 55 | 100 | 79 | 100 | 28 | 100 | 331 | 100 |
MSUD, maple syrup urine disease; OTCD, ornithine transcarbamylase deficiency; MMA, methylmalonic acidemia; PA, propionic acidemia; MADD, multiple acyl‐coenzyme A dehydrogenase deficiency; CTD, carnitine transport defect; HPA, hyperphenylalaninemia.