Metabolic diseases

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Update : 2020.11.27

Name of diseases Patient No. *Terms Approval Form HPS Reference
Metabolic diseases
1. lysosomal storage disease
Metachromatic leukodystrophy (MLD) 1 HPS0240*
Tay-Sachs’ disease(RCB0697 GM2-1TKB) 1 HPS0149* HPS0150*
Niemann-Pick disease, Type C variant biochemical phenotype 1 Unnecessary HPS0488 HPS0489 HPS0490 PMID: 23193063
Mucopolysaccharidosis (MPS) 1 Unnecessary HPS0660 HPS0661 HPS0662 HPS0663 HPS0664 HPS0665
Mucopolysaccharidosis (MPS)VI 1 Unnecessary HPS0546 HPS0547 HPS0548
2 Unnecessary HPS0549 HPS0550 HPS0551
Sanfilippo syndrome, MPS IIIC (acetyl-CoA:heparan-α-D-glucosaminide N-acetyltransferase deficiency) 1 Unnecessary HPS2870 HPS2871 HPS2872 HPS2873 HPS2874 HPS2875
Fabry disease 1 Unnecessary HPS3284 HPS3285 HPS3286 HPS3287 HPS3288 HPS3289
Fabry disease, symptomatic heterozygate / unknown genetic etiology 1 Unnecessary HPS2108 HPS2109 HPS2110 HPS2111 HPS2112 HPS2113
Fabry disease, mutation of pseudogene 1 Unnecessary HPS1632 HPS1633 HPS1634 HPS1635 HPS1636 HPS1637
GM1-gangliosidosis 1 Unnecessary HPS1532 HPS1533 HPS1534 HPS1535 HPS1536 HPS1537
2 Unnecessary HPS2337 HPS2338 HPS2339 HPS2340
Hunter syndrome, unknown genetic etiology 1 Unnecessary HPS2359 HPS2360 HPS2361 HPS2362 HPS2363 HPS2364
Hunter syndrome, recombination of IDS preudogene 1 Unnecessary HPS1478 HPS1479 HPS1480 HPS1481 HPS1482 HPS1483
Cystinosis 1 Unnecessary HPS1427 HPS1428 HPS1429
Galactosialidosis, adult type 1 Unnecessary HPS1936 HPS1937 HPS1938 HPS1939 HPS1940 HPS1941
Gaucher’s disease, type 1.1 / mutation in glucocerebrosidase 1 Unnecessary HPS2383 HPS2384 HPS2385 HPS2386 HPS2387 HPS2388
2. Adrenoleukodystrophy (ALD)
Adrenoleukodystrophy (ALD) 1 Unnecessary HPS1090 HPS1091 HPS1092 HPS1093 HPS1094 HPS1095
2 Unnecessary HPS1096 HPS1097 HPS1098 HPS1099 HPS1100 HPS1101
3. Mitochondrial diseases
Mitochondrial diseases 1 HPS0070* HPS0071*
2 Unnecessary HPS0458 HPS0459 HPS0460 PMID: 23193063
3 Unnecessary HPS0461 HPS0462 HPS0463 PMID: 23193063
4 Unnecessary HPS1853
5 Unnecessary HPS1854
Mitochondrial diseases, MELAS 1 Unnecessary HPS2864 HPS2865 HPS2866 HPS2867 HPS2868 HPS2869
4.Amyloid neuropathy
Amyloid neuropathy, Familial type 1 HPS0224* HPS0225* HPS0226*
2 HPS0227* HPS0228*
Systemic amyloidosis, hereditary amyloidosis 1 Unnecessary HPS2018 HPS2019 HPS2020 HPS2021 HPS2022 HPS2023
Systemic amyloidosis, AL amyloidosis 1 Unnecessary HPS2024 HPS2025 HPS2026 HPS2027 HPS2028 HPS2029
5.Wilson’s disease
Wilson’s disease(RCB0390 NCU-F3) 1 Unnecessary HPS0049 HPS0050 HPS0051 HPS0052
Wilson’s disease(RCB0391 NCU-F4) 2 Unnecessary HPS0053 HPS0054 HPS0055 HPS0056
Wilson’s disease(RCB0395 NCU-F8) 3 Unnecessary HPS0045 HPS0046 HPS0047 HPS0048
Wilson’s disease, unknown genetic etiology 1 Unnecessary HPS2804 HPS2805 HPS2806 HPS2807 HPS2808 HPS2809
Phenylketonuria, Phenylalanine hydroxylase deficiency 1 Unnecessary HPS2858 HPS2859 HPS2860 HPS2861 HPS2862 HPS2863
7. Ornithine transcarbamylase deficiency (OTCD)
Ornithine transcarbamylase deficiency (OTCD) (RCB0492 OTCD1TKB) 1 Unnecessary HPS0087*
8. Glycogen storage disease
Glycogen storage disease, GSD type V (muscle glycogen phosphorylase deficiency) 1 Unnecessary HPS3254 HPS3255 HPS3256 HPS3257 HPS3258 HPS3259
Pompe’s disease 1 HPS0175* HPS0176* HPS0177*
Pompe’s disease, adult type / unknown genetic etiology 1 Unnecessary HPS2389 HPS2390 HPS2391 HPS2392 HPS2393 HPS2394
9. Glycogen storage disease
Glycogen storage disease, Type 1a 1 HPS3924* HPS3925* HPS3926*
Glycogen storage disease, Type 1b 1 HPS0064*

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