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Table 3 Undiagnosed patients: reasons for referral and diagnosis

From: Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics

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
  1. Abbreviations: ARPEO: autosomal recessive progressive external ophalmoplegia; AMN, adrenomyeloneuropathy; CPEO: chronic progressive external ophthalmoplegia; CBS: cystathionine-β synthase deficiency; FHx: family history; HI/HA, hyperinsulinism/hyperammoniemia; ID; identity number, KSS: Kearns-Sayre Syndrome; MTHFR, methylenetetrahydrofolate reductase; NA: not applicable; OMIM: online mendelian inheritance in man; OTC, ornithine transcarbamylase; PLOSL, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; X-ALD, X-linked adrenoleucodystrophy