Table 3 Undiagnosed patients: reasons for referral and diagnosis
ID | Reason for referral | IEM diagnosis | OMIM# |
|---|---|---|---|
1 | Myopathy, ptosis | Mitochondrial disease (CPEO) | 609,286 |
2 | Epilepsy, ophthalmoplegia, ptosis | Mitochondriopathy disease (ARPEO) | 258,450 |
3 | Myopathy, arthralgia, cognitive delay | Myoadenylate deaminase deficiency | 615,511 |
4 | Myopathy, ovary insufficiency, cognitive decline, palpebral ptosis | Mitochondrial disease (ovario leucodystrophy related to AARS2 variant) | 615,889 |
5 | Myopathy, respiratory insufficiency | Heterozygous for Pompe late-onset disease (2nd variant not found) | 232,300 |
6 | Myopathy, respiratory insufficiency | Pompe late-onset disease | 232,300 |
7 | Myopathy, ophthalmoplegia, ptosis | Mitochondrial disease (CPEO) | 609,286 |
8 | Pulmonary embolism | Homocystinuria due to CBS deficiency | 236,200 |
9 | Intestinal ischemic thrombosis, pulmonary embolism | Homocystinuria due to CBS deficiency | 236,200 |
10 | Myopathy, ptosis | Mitochondrial disease (KSS) | 530,000 |
11 | Biochemical hypermethioninemia, cognitive delay | Methionine adenosyltransferase I/III deficiency | 250,850 |
12 | Progressive myelopathy | X-linked AMN | 300,100 |
13 | Splenomegaly, liver cirrhosis, bone lesions | Niemann-Pick type B | 607,616 |
14 | Hypoglycemia, hyperammoniemia | HI/HA syndrome | 606,762 |
15 | Positive FHx for OTC | OTC deficiency | 311,250 |
16 | Positive FHx for CBS deficiency | Homocystinuria due to CBS deficiency | 236,200 |
17 | Positive FHx for CBS deficiency | Homocystinuria due to CBS deficiency | 236,200 |
18 | Positive FHx for CBS deficiency | Homocystinuria due to CBS deficiency | 236,200 |
19 | Positive FHx for CBS deficiency | Homocystinuria due to CBS deficiency | 236,200 |
ID | Reason for referral | Other Genetic diagnosis | |
20 | Spastic paraparesis, cognitive delay | Spastic paraparesis related to SPG11 variant | 604,360 |
21 | Cerebral calcification, leukoencephalopathy | Nasu-Hakola syndrome (PLOSL) | 618,193 |
22 | Peripheric weakness, ataxia, ophthalmoplegia | Autosomal dominant spinocerebellar ataxia 5 | 600,224 |
23 | Familial neuropathy, muscle weakness | Charcot-Marie Tooth related to LRSAM1 variant | 614,436 |
24 | Cognitive decline, peripheric neuropathy, polyglucosan bodies | Charcot-Marie Tooth related to HARS1 variant | 616,625 |
ID | Reason for referral | Possibly related polymorphisms | |
25 | Mild elevation of homocysteine | MTHFR polymorphism (compound heterozygous) | NA |
26 | Mild elevation of homocysteine, venous thrombosis | MTHFR polymorphism (compound heterozygous) | NA |
27 | Recurrent pregnancy loss | MTHFR polymorphism (compound heterozygous) | NA |