|
| Categories | Diseases∗ | Cases | Major diagnostic evidences | Clinical outcomes |
|
| Disorders of Carbohydrate metabolism | Galactosemia | 1 | Clinical features including congenital cataract and leukodystrophy, and GC-MS analysis | Lost contact |
| Fructosuria | 2 | GC-MS analysis | Both lost contact |
|
| Disorders of Amino acid metabolism | Phenylketonuria | 7 | GC-MS analysis in 6 cases, and PAH gene analysis in 1 case | Referred to local network of management and 2 died after treatment withdrawal |
| Histidinemia | 1 | Repeated MS-MS analysis | Lost contact |
| Hyperhomocysteinemia | 2 | Total plasma homocysteine levels and MS-MS analysis | 1 died, and 1 stable without obvious clinical or biochemical improvement |
| Pyroglutamic acidemia | 1 | GC-MS analysis | Lost contact |
| Tyrosinemia type I | 1 | GC-MS and MS-MS findings | Died due to acute liver failure |
| Hyperglycinemia | 1 | GC-MS and MS-MS analysis | Intractable seizures and behavioral problem |
| Canavan’s disease | 1 | GC-MS analysis | Lost contact |
|
| Organic acidemia | Methylmalonic acidemia | 11 | GC-MS, MS-MS and MMACHC gene analysis, with 5 combined with hyperhomocysteinemia | 5 died after withdrawal of treatment, 3 improved and 3 lost contact |
| Maple syrup urine disease | 2 | GC-MS and MS-MS analysis | Both died |
| Ethylmalonic acidemia | 1 | GC-MS analysis | Lost contact |
| Propionic acidemia | 3 | GC-MS analysis | 2 stable with episodic hyperammonemia, and 1 lost contact |
| Glutaric acidemia type I | 2 | GC-MS and MS-MS analysis | 1 lost contact and 1 stable |
| Glutaric acidemia type II | 1 | GC-MS analysis | Stable |
| 2-hydroxyglutaric acidemia | 1 | GC-MS analysis | Lost contact |
| 4-hydroxybutyric aciduria | 1 | GC-MS and ALDH5A1 gene analysis | Stable but with seizure episodes |
| Multiple carboxylase deficiency | 4 | GC-MS, biotinidase activity, and HLCS gene analysis | 1 died, 3 recovered/improved clinically |
|
| Urea cycle disorders | OTCD | 2 | GC-MS and MS-MS analysis | Recovered clinically |
| Hyperammonemia | 4 | Markedly increased serum ammonia levels, but with etiologies undetermined yet | All lost contact |
| Citrin deficiency | 2 | SLC25A13 mutation analysis | 1 died due to liver cirrhosis, 1 improved |
|
| Mitochondrial disease | Leigh syndrome | 5 | Clinical and imaging features, serum/CSF lactate levels, and electronic microscopy findings on muscle biopsy samples | 3 died already, and the remaining 2 stable at follow-up |
|
| Lysosome storage diseases | Mucopolysaccharidosis type I | 1 | Typical clinical manifestations | Improved after bone marrow transplantation |
| Mucopolysaccharidosis type II | 2 | Activity analysis of iduronate-2-sulphatase | Lost contact |
|
| Peroxisomal disorders | X-linked adrenoleukodystrophy | 2 | Clinical manifestations, CT/MRI findings, and MS-MS analysis of VLCFA | Both Died |
|
| Others | Glyceroluria | 4 | GC-MS analysis | 1 died after severe infection, 3 lost contact |
| 3-aminoisobutyric aciduria | 1 | GC-MS analysis | Lost contact |
|
