Lipid Metabolism Disorders

Description  OMIM Number 
ABETALIPOPROTEINEMIA; ABL 200100
ACYL-CoA DEHYDROGENASE LONG-CHAIN DEFICIENCY OF 201460
ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN; ACADM 201450
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF 201470
ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN; ACADSB 600301
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF 201475
APOLIPOPROTEIN C-II DEFICIENCY, TYPE I HYPERLIPOPROTEINEMIA DUE TO 207750
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP 212140
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD 212138
FABRY DISEASE 301500
FARBER LIPOGRANULOMATOSIS 228000
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE I 230500
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE II, OR JUVENILE TYPE 230600
GAUCHER DISEASE, TYPE I 230800
GAUCHER DISEASE, TYPE II 230900
GAUCHER DISEASE, TYPE III 231000
HYPERCHOLESTEROLEMIA FAMILIAL 143890
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE; ARH 603813
HYPERLIPIDEMIA, FAMILIAL COMBINED 144250
HYPERLIPOPROTEINEMIA, TYPE I 238600
KRABBE DISEASE 245200
LIPASE DEFICIENCY COMBINED 246650
LIPASE, CONGENITAL ABSENCE OF PANCREATIC 246600
LIPOID PROTEINOSIS OF URBACH AND WIETHE 247100
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY 609016
METACHROMATIC LEUKODYSTROPHY 250100
MEVALONATE KINASE; MVK MEVALONICACIDURIA, INCLUDED 251170
MULTIPLE SULFATASE DEFICIENCY 272200
MYOPATHY WITH DEFICIENCY OF CARNITINE PALMITOYLTRANSFERASE II 255110
NIEMANN-PICK DISEASE, TYPE A 257200
NIEMANN-PICK DISEASE, TYPE B 607616
NIEMANN-PICK DISEASE, TYPE C1 257220
NIEMANN-PICK DISEASE, TYPE C2 607625
REFSUM DISEASE 266500
REFSUM DISEASE, INFANTILE FORM 266510
SANDHOFF DISEASE 268800
SEA-BLUE HISTIOCYTE DISEASE 269600
SITOSTEROLEMIA 210250
SJOGREN-LARSSON SYNDROME 270200
TAY-SACHS DISEASE, AB VARIANT 272750
TAY-SACHS DISEASE; TSD 272800
TRIFUNCTIONAL PROTEIN DEFICIENCY 609015
WOLMAN DISEASE 278000