|
rdf:type |
|
|
calbc:hasCorrelation |
|
|
skos:exactMatch |
|
|
skos:definition |
MSH: An inherited metabolic disorder caused by deficient enzyme activity in the PYRUVATE DEHYDROGENASE COMPLEX, resulting in deficiency of acetyl CoA and reduced synthesis of acetylcholine. Two clinical forms are recognized: neonatal and juvenile. The neonatal form is a relatively common cause of lactic acidosis in the first weeks of life and may also feature an erythematous rash. The juvenile form presents with lactic acidosis, alopecia, intermittent ATAXIA; SEIZURES; and an erythematous rash. (From J Inherit Metab Dis 1996;19(4):452-62) Autosomal recessive and X-linked forms are caused by mutations in the genes for the three different enzyme components of this multisubunit pyruvate dehydrogenase complex. One of the mutations at Xp22.2-p22.1 in the gene for the E1 alpha component of the complex leads to LEIGH DISEASE.,JABL: An inborn error of metabolism in which deficiency of pyruvate dehydrogenase complex is complicated by variable metabolic and neurological disorders. Neonatal lactic acidosis is usually as
|
|
skos:inScheme |
|
|
skos:narrower |
|
|
skos-xl:prefLabel |
|
|
skos-xl:altLabel |
umls-label:A1184507,
umls-label:A11979591,
umls-label:A11987124,
umls-label:A12029979,
umls-label:A1641155,
umls-label:A1642695,
umls-label:A1642696,
umls-label:A1642697,
umls-label:A1642698,
umls-label:A1703412,
umls-label:A17969306,
umls-label:A17993374,
umls-label:A18065311,
umls-label:A20267879,
umls-label:A20274132,
umls-label:A20275763,
umls-label:A20275764,
umls-label:A20278924,
umls-label:A20901545,
umls-label:A20901546,
umls-label:A20903385,
umls-label:A20903386,
umls-label:A20903387,
umls-label:A20903388,
umls-label:A20905316,
umls-label:A20907232,
umls-label:A20907233,
umls-label:A20907234,
umls-label:A20907235,
umls-label:A20909173,
umls-label:A20909174,
umls-label:A20912839,
umls-label:A20912840,
umls-label:A20912841,
umls-label:A20914702,
umls-label:A20914703,
umls-label:A20914704,
umls-label:A20914705
|
|
umls:relation |
http://linkedlifedata.com/resource/umls/relation/R18721319,
http://linkedlifedata.com/resource/umls/relation/R132907491,
http://linkedlifedata.com/resource/umls/relation/R132907540,
http://linkedlifedata.com/resource/umls/relation/R132907821,
http://linkedlifedata.com/resource/umls/relation/R64595785,
http://linkedlifedata.com/resource/umls/relation/R64602357,
http://linkedlifedata.com/resource/umls/relation/R64579259,
http://linkedlifedata.com/resource/umls/relation/R32108747,
http://linkedlifedata.com/resource/umls/relation/R32108748,
http://linkedlifedata.com/resource/umls/relation/R32108746,
http://linkedlifedata.com/resource/umls/relation/R120507778,
http://linkedlifedata.com/resource/umls/relation/R120507779,
http://linkedlifedata.com/resource/umls/relation/R120507780,
http://linkedlifedata.com/resource/umls/relation/R120507781,
http://linkedlifedata.com/resource/umls/relation/R120507784,
http://linkedlifedata.com/resource/umls/relation/R120507785,
http://linkedlifedata.com/resource/umls/relation/R120507786,
http://linkedlifedata.com/resource/umls/relation/R120507787,
http://linkedlifedata.com/resource/umls/relation/R120507788,
http://linkedlifedata.com/resource/umls/relation/R120507798,
http://linkedlifedata.com/resource/umls/relation/R120507789,
http://linkedlifedata.com/resource/umls/relation/R120507790,
http://linkedlifedata.com/resource/umls/relation/R120507791,
http://linkedlifedata.com/resource/umls/relation/R120507792,
http://linkedlifedata.com/resource/umls/relation/R120507794,
http://linkedlifedata.com/resource/umls/relation/R120507795,
http://linkedlifedata.com/resource/umls/relation/R120507796,
http://linkedlifedata.com/resource/umls/relation/R120507797,
http://linkedlifedata.com/resource/umls/relation/R120507801,
http://linkedlifedata.com/resource/umls/relation/R120507802,
http://linkedlifedata.com/resource/umls/relation/R120507804,
http://linkedlifedata.com/resource/umls/relation/R120507805,
http://linkedlifedata.com/resource/umls/relation/R120507806,
http://linkedlifedata.com/resource/umls/relation/R120507807,
http://linkedlifedata.com/resource/umls/relation/R120507808,
http://linkedlifedata.com/resource/umls/relation/R120507809,
http://linkedlifedata.com/resource/umls/relation/R120507810,
http://linkedlifedata.com/resource/umls/relation/R120507811,
http://linkedlifedata.com/resource/umls/relation/R120507812,
http://linkedlifedata.com/resource/umls/relation/R120507813,
http://linkedlifedata.com/resource/umls/relation/R120507800,
http://linkedlifedata.com/resource/umls/relation/R120507782,
http://linkedlifedata.com/resource/umls/relation/R120507793,
http://linkedlifedata.com/resource/umls/relation/R120507803,
http://linkedlifedata.com/resource/umls/relation/R120507783,
http://linkedlifedata.com/resource/umls/relation/R120507799
|
