SHMARQL

beta-ketothiolase deficiency

<http://www.wikidata.org/entity/Q4897218>

Human disease
rdfs:label
"beta-ketothiolase deficiency"@en
skos:altLabel
"2-Methyl-3-Hydroxybutyric Acidemia"@en
"2-methyl-3-hydroxybutyricacidemia"@en
"3-Ktd Deficiency"@en
"3-ketothiolase deficiency"@en
"3-oxothiolase deficiency"@en
"ALPHA-METHYLACETOACETIC ACIDURIA"@en
"Alpha methylacetoacetic aciduria"@en
"Alpha-methyl-acetoacetyl-CoA thiolase deficiency"@en
"BKT"@en
"Beta-Ketothiolase Deficiency"@en
"Mat Deficiency"@en
"Mitochondrial acetoacetyl-CoA Thiolase deficiency"@en
"Mitochondrial acetoacetyl-coenzyme A thiolase deficiency"@en
"T2 Deficiency"@en
"alpha-methylacetoaceticaciduria"@en
"peroxisomal thiolase deficiency"@en
"peroxisomal thiolase deficiency (disorder)"@en
schema:description
"Human disease"@en
schema:dateModified "2026-10-23T23:22:31+00:00"^^xsd:dateTime
schema:version 2560153526
wikibase:identifiers 17
19
wikibase:sitelinks 6
wikibase:statements 62
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p:P1550 wd:statement/Q4897218-fe60dae0-4391-650c-ad83-53cf66130332
p:P1748 wd:statement/Q4897218-BD573C32-DB3F-4022-BEC8-0EA7080CAA06
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wd:statement/Q4897218-e24e40c8-403c-0b62-099a-04cc7c943665
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wd:statement/Q4897218-F804E4CA-85D9-4818-9ED4-9FB3AD089A96
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wd:statement/Q4897218-C5AD961A-0DB4-4C83-9E98-E49F53F57C93
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wd:statement/Q4897218-C1DC5920-C356-42BD-B6C5-A3C3E5D584B7
p:P31 wd:statement/Q4897218-272CA385-D46E-453F-949A-E9DE46B02153
wd:statement/Q4897218-980BEBFA-753D-4126-BE47-A413F4FF316C
wd:statement/Q4897218-A7A29F15-387F-47A1-9960-38022B53FD26
p:P4229 wd:statement/Q4897218-1D4F0934-998D-4BCA-B1F5-2315D664035E
p:P4317 wd:statement/Q4897218-8747F882-FC13-4CE5-B6EF-B2D7485E5BB5
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wd:statement/Q4897218-057D90CC-FF2D-4A4C-85E2-845D2D369382
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wd:statement/Q4897218-58DDDA63-2E8C-480A-AF18-4570C79B6E40
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wd:statement/Q4897218-B84E750F-9434-4517-9F93-529C1C79A8F2
wd:statement/Q4897218-C7EB3AAF-5D94-4523-A0F3-C0CCDDFA1376
wd:statement/Q4897218-D9E44EB8-164D-49CA-97CA-313A955F9CF0
wd:statement/Q4897218-EA1A5D2E-C3DF-40B9-8778-628E5243C857
wd:statement/Q4897218-ED3AC1F1-8616-4F16-AD35-E9F2EC19415F
wd:statement/Q4897218-F11F742B-95EC-461F-9FA2-52494DCFD15A
wd:statement/Q4897218-F4CE9EDF-64A2-49EC-AD51-44B0EB1A2FE2
wd:statement/Q4897218-F820E295-727E-4732-A118-2A86CAB4ECFE
p:P665 wd:statement/Q4897218-3F95052F-EBA3-414A-95C9-2BB9CA7FDE19
p:P699 wd:statement/Q4897218-18DDFD93-B41D-4749-8C08-164E1EAB52CA
p:P7464 wd:statement/Q4897218-AD60806D-BCA9-458C-AF6C-9C2C6618E0A5
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/C535434>
<http://id.nlm.nih.gov/mesh/C535818>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0008760>
p:direct-normalized/P6366 <https://makg.org/entity/2780672997>
<https://makg.org/entity/2909784074>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H01076>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:14723>
wdt:P11143 "Beta-ketothiolase deficiency"
wdt:P11430 "DI-00009"
wdt:P1325 <http://www.nanbyou.or.jp/entry/5443>
wdt:P14914 "D00134"
wdt:P1550 "134"
wdt:P1748 "C98841"
wdt:P2293 ACAT1
wdt:P279 autosomal recessive disease
congenital disorder of amino acid metabolism
classic organic aciduria
inborn disorder of ketolysis
wdt:P2841 neonatal onset
infantile onset
childhood onset
wdt:P2888 <http://identifiers.org/doid/DOID:14723>
<http://purl.obolibrary.org/obo/DOID_14723>
<http://www.orpha.net/ORDO/Orphanet_134>
wdt:P2892 "C1533628"
"C1536500"
wdt:P31 type of disease
designated intractable/rare disease
rare disease
wdt:P4229 "E71.1"
wdt:P4317 "872"
wdt:P486 "C535434"
"C535818"
wdt:P492 "203750"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0008760"
wdt:P557 "29824"
wdt:P6366 "2780672997"
"2909784074"
wdt:P6532 alteration of consciousness
mild intellectual disabilty
motor delay
Severe mental retardation
vomiting
hepatomegaly
Abnormality of mental function
edema
thrombogavitis
cerebellar ataxia
coma
hyperammonemia
hypotonia
pallor
anorexia
hypotension
Abnormal metabolic brain imaging by MRS
apathy
diarrhea
arterial hypertension
hyperuricemia
Elevetated blood lactate
tachypnea
seizure
weight loss
leukocytosis
wdt:P665 "H01076"
wdt:P699 "DOID:14723"
wdt:P7464 "beta-ketothiolase-deficiency"
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