SHMARQL

short-chain acyl-coenzyme A dehydrogenase deficiency

<http://www.wikidata.org/entity/Q7501551>

lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids
rdfs:label
"short-chain acyl-coenzyme A dehydrogenase deficiency"@en
skos:altLabel "ACADSD"@en
"ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF"@en
"ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD"@en
"Acads Deficiency"@en
"Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency"@en
"SCAD"@en
"SCAD deficiency"@en
"SCADD"@en
"Scadh Deficiency"@en
"Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)"@en
"Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (SCAD)"@en
"Short-chain acyl-CoA dehydrogenase deficiency"@en
"Short-chain acyl-coenzyme A dehydrogenase deficiency"@en
"acyl-CoA dehydrogenase, short-chain deficiency"@en
"short chain acyl-CoA dehydrogenase deficiency"@en
schema:description
"lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids"@en
schema:dateModified "2026-10-23T23:52:36+00:00"^^xsd:dateTime
schema:version 2560159869
wikibase:identifiers 14
16
wikibase:sitelinks 2
wikibase:statements 49
p:P11430 wd:statement/Q7501551-c5ea4f07-4832-815f-8f7a-a1bc87e66b91
p:P14914 wd:statement/Q7501551-4DC4B4F8-7A2A-4A27-B09B-C9630E1036D0
p:P1550 wd:statement/Q7501551-ca2ecbb3-4425-58ba-5664-b2518acbd4f7
p:P1748 wd:statement/Q7501551-40a25b13-42b5-c6cf-2f8e-020f19bf8d0d
p:P2293 wd:statement/Q7501551-A66B72C8-B81B-47A9-AB79-D347EC2287A7
p:P279 wd:statement/Q7501551-3479E509-F35E-41D0-A48C-4AB9A03D5101
wd:statement/Q7501551-4B447CFD-74E9-4B10-904D-F445377A6DE4
wd:statement/Q7501551-571da0e3-4e8b-cf1f-598f-2e025700007e
wd:statement/Q7501551-97242CBF-B067-44A9-8117-00E2AAB8BBD3
p:P2841 wd:statement/Q7501551-18ABEEB5-3E25-491D-B654-B2ECFD1A0E23
wd:statement/Q7501551-6C1A2AA1-2931-4B26-B906-15B1BCBF3A9C
wd:statement/Q7501551-7BEBEA8D-5278-45D7-AEAB-A28791DEA2C7
p:P2888 wd:statement/Q7501551-14B3E11B-E349-4D4E-B142-473C64B1BFF9
wd:statement/Q7501551-2214906F-B8C2-440B-A099-2F10E872F447
wd:statement/Q7501551-C8589FB7-A946-42D4-8F96-5D770741C8EF
p:P2892 wd:statement/Q7501551-f7f3fe60-491b-9e7c-611e-3b6dfad7ec69
p:P31 wd:statement/Q7501551-A825DF8B-C16F-41CE-BD35-46E70679AD1E
wd:statement/Q7501551-F2352511-B1F7-44DB-8074-00BB1944718F
p:P4229 wd:statement/Q7501551-4EC2EF08-A028-4604-94E7-7D918679839F
wd:statement/Q7501551-82693CA5-1977-4471-B14B-9A72B51EB47C
p:P4317 wd:statement/Q7501551-BC41EB31-DEB9-4DE8-8188-0210EF740CCB
p:P486 wd:statement/Q7501551-2adf0b1c-46b8-7665-13d2-2db512ad180e
p:P492 wd:statement/Q7501551-B19881E0-0539-4980-B637-D7B60D7AECD6
p:P493 wd:statement/q7501551-51DE06BD-FF11-4257-AA9A-D69C90E32741
p:P5008 wd:statement/Q7501551-3228E052-F59E-47D8-952D-594B5D0AFF2A
p:P5270 wd:statement/Q7501551-06ED5BE0-8F78-4F75-A409-BD84B5414E2E
p:P557 wd:statement/q7501551-E082D58D-F6D9-4CA8-AA14-E33ACAD32346
p:P6366 wd:statement/Q7501551-951D7CCF-8CC3-47AB-8A6F-885DBCDDA764
p:P6532 wd:statement/Q7501551-0AF051A7-5B3B-4D67-A0D5-E5C2D8297EFE
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wd:statement/Q7501551-2CA9F80A-865C-4111-BB3C-0BB1C89B3698
wd:statement/Q7501551-3588E703-0006-4E93-ADDF-F3E1E04F4C93
wd:statement/Q7501551-38516C65-92B7-4D3D-A08C-86AEEE70E539
wd:statement/Q7501551-41346C85-4862-4407-A404-3F7262E38B14
wd:statement/Q7501551-45E9BB0F-03D5-4872-85E4-14EC98D7DE81
wd:statement/Q7501551-5760222D-276A-4409-9EC2-A353904BBEFF
wd:statement/Q7501551-5BFF5928-2B9A-4698-9A01-C5DB8FB141CE
wd:statement/Q7501551-601647F8-61A3-4773-A5FB-93F1962E07BF
wd:statement/Q7501551-7EC66BDC-F71D-4C75-A624-7E3BB4039282
wd:statement/Q7501551-8FA635D0-F8CF-421D-AA7C-2EBAA6AD7A88
wd:statement/Q7501551-B4BCBC74-1352-422F-8A5E-614FF83AF4FC
wd:statement/Q7501551-BAAD964F-83AE-4330-A3A0-6DF4995EFD37
wd:statement/Q7501551-C241CF43-C36F-4F0C-AE6B-C5AE9998C2A9
wd:statement/Q7501551-CDACEBDD-35DB-4280-8545-AD9C454BA3EE
wd:statement/Q7501551-DA67F733-7F9B-4873-8B4F-04AB66597E1F
wd:statement/Q7501551-FF1DB24C-9D76-4CDE-8E23-9B828EAAF10E
p:P665 wd:statement/Q7501551-2BCA6266-8863-4356-8F43-5F2839FF2766
p:P699 wd:statement/Q7501551-5E4DA1F7-7150-4985-8183-4BF04DEC2845
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C537596>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0008722>
p:direct-normalized/P6366 <https://makg.org/entity/2778424152>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01980>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0080154>
wdt:P11430 "DI-02301"
wdt:P14914 "D26792"
wdt:P1550 "26792"
wdt:P1748 "C84539"
wdt:P2293 ACADS
wdt:P279 rare dyslipidemia
acyl-CoA dehydrogenase deficiency
wdt:P2841 neonatal onset
infantile onset
childhood onset
wdt:P2888 <http://identifiers.org/doid/DOID:0080154>
<http://purl.obolibrary.org/obo/DOID_0080154>
<http://www.orpha.net/ORDO/Orphanet_26792>
wdt:P2892 "C0342783"
wdt:P31 type of disease
rare disease
wdt:P4229 "E71.3"
"E71.312"
wdt:P4317 "4822"
wdt:P486 "C537596"
wdt:P492 "201470"
wdt:P493 "277.85"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0008722"
wdt:P557 "31599"
wdt:P6366 "2778424152"
wdt:P6532 feeding difficulties
Neurodevelopmental delay
Ketotic hypoglycemia
Respiratory distress
Hypoglycemic encephalopathy
Floppy infant
Elevated circulating fatty acylcarnitine concentration
failure to thrive
intrauterine growth restriction
global developmental delay
abnormal facial shape
behavioral abnormality
optic atrophy
microcephaly
hypertonia
fatty liver disease
seizure
muscular disease
dystonia
wdt:P665 "H01980"
wdt:P699 "DOID:0080154"
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