sameAs
P2293
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiencyIsolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapyCloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiencyConsanguineous 3-methylcrotonyl-CoA carboxylase deficiency: early-onset necrotizing encephalopathy with lethal outcomeA single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiencyIs L-Carnitine Supplementation Beneficial in 3-Methylcrotonyl-CoA Carboxylase Deficiency?Molecular mechanism of dominant expression in 3-methylcrotonyl-CoA carboxylase deficiency.3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.Neurochemical evidence that the metabolites accumulating in 3-methylcrotonyl-CoA carboxylase deficiency induce oxidative damage in cerebral cortex of young rats.Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiency.3-Methylcrotonyl-CoA carboxylase deficiency: phenotypic variability in a family.Anesthetic management of a patient with 3-methylcrotonyl-CoA carboxylase deficiency.Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.Metabolic stroke in isolated 3-methylcrotonyl-CoA carboxylase deficiency.3-methylcrotonyl-CoA carboxylase deficiency and severe multiple sclerosis.Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure.Isolated 3-methylcrotonyl-CoA carboxylase deficiency in a 15-year-old girl.Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs.3-methylcrotonyl-CoA carboxylase deficiency in an infant with cardiomyopathy, in her brother with developmental delay and in their asymptomatic father.Late-infantile 3-methylcrotonyl-CoA carboxylase deficiency presenting as global developmental delay.[A novel compound heterozygous mutation causing 3-methylcrotonyl-CoA carboxylase deficiency].Isolated biotin-resistant 3-methylcrotonyl CoA carboxylase deficiency presenting with life-threatening hypoglycaemia.Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiencyGlycine andl-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiencyIsolated 3-methylcrotonyl-CoA carboxylase deficiency in a 16-month-old childIsolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency presenting as a Reye syndrome-like illness3-Hydroxyisovalerylcarnitine in 3-methylcrotonyl-CoA carboxylase deficiencyIsolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology[3-Methylcrotonyl-CoA carboxylase deficiency]3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screeningNewborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
P921
Q24290840-FC8D8164-5105-413E-A5C3-4A2CD4FCF55EQ24534070-67F4354E-660C-4343-81F4-CFCBC0911641Q28201862-28008618-9A1C-423B-9A59-8025773BF8F5Q28248874-49A7531F-8AEF-49A3-BFF3-F87EAD1BBF30Q28257828-3D1A1F6F-3806-4BB8-988B-94A75A3953ACQ35752479-DC2ED444-4DC2-4537-90B4-C35625869BE7Q36114791-E9335AE8-6170-4FC3-884E-B00D94802A5AQ36389786-A4FA8B3E-B740-4BF3-998A-EF2D5972D241Q37044048-081ECAEE-C68A-462C-A57D-926DB5046B84Q37431200-533F2FD3-6CAE-4FAA-83C0-E7427E1D9E8EQ38150536-698B8874-B600-4D79-A9EB-60306CA97931Q39416511-D138E4B5-C96C-4E92-860D-63F80FF9D13EQ40322823-9A4100C8-3196-4D2B-8170-BBE0E2D827F3Q40934721-5E02E021-9783-4107-B256-6DDF0416A5FFQ42662095-B93DAEEB-BCFE-4665-9881-86CFE46296C6Q43916973-6275C4C5-2D63-46EA-AEB1-0FE0F4C78D5AQ44519978-59CBD060-78E9-4A84-8467-DEFED1FCFA50Q44638197-CDA5B5DC-9830-4BAD-95AE-25A451DFBCA7Q44652116-1A952808-5EB3-4E89-8859-B74C22DCC608Q46065031-8B5F21DB-E017-4DE0-9331-87BBEC8571D8Q46479861-9B49E99D-E5A7-4DCC-A2D0-EF09893825B6Q46910618-FB49C366-E98A-43ED-BD59-0F15C62C83D3Q48113982-AD8DB6B8-8CDE-4FA0-BBA4-5D1ED54C8CAAQ48286832-AF99F2F3-D6AB-4CCE-94C5-043FD0326DCFQ48492384-071DD239-4F6C-4728-A838-B726C491C424Q48696984-1885FE01-2DA5-478C-986D-A826160F7967Q52098193-EE6F9BC0-B55A-4B1B-BE97-91A0450AE3F5Q52142954-028B2DF9-2D68-4237-902B-168FA87F9C32Q52187882-6B49E796-1677-41E7-A2BF-29EA1F5A83F3Q52674685-4D070906-03EF-40A7-96FE-70F5A77124AFQ54483279-E5F426AC-3372-46B0-A132-CFDF7473231EQ57577790-710122AB-79D1-472C-90C2-84593768C402Q63384425-2E8647E6-5B38-448A-BD1A-4B6B0A355260Q67836119-F8A19EE5-4558-4F66-A2D9-A2E025AE607CQ69267956-58EB2216-7E27-47D8-83DA-B81A2E2F02B0Q70994531-821FB571-D0F9-439C-8F89-0362772DC85FQ70994580-4FE19A32-4750-464A-9E71-56CA77586C46Q74556973-26BE0C54-32AE-4673-B141-36CB6339CDCFQ79400906-A86618AF-BC45-445F-9B79-846D42D7EC0CQ79886960-D23353C6-5F2C-48F5-A75E-A8CAEECF6601
P921
description
Human disease
@en
Krankheit
@de
genetycznie uwarunkowane zaburzenie metabolizmu leucyny
@pl
مرض يصيب الإنسان
@ar
name
3-methylcrotonyl-CoA carboxylase deficiency
@en
3-metylokrotonyloglicynuria
@pl
Isolierter Carboxylase-Mangel
@de
déficit en 3-méthylcrotonyl-CoA carboxylase
@fr
type
label
3-methylcrotonyl-CoA carboxylase deficiency
@en
3-metylokrotonyloglicynuria
@pl
Isolierter Carboxylase-Mangel
@de
déficit en 3-méthylcrotonyl-CoA carboxylase
@fr
altLabel
3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
@en
3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D
@en
3-Methylcrotonylglycinuria 1
@en
3-methylcrotonylglycinuria
@en
3MCC deficiency
@en
BMCC deficiency
@en
MCC1D
@en
Mcc1 Deficiency
@en
Mccd Type 1
@en
Methylcrotonylglycinuria Type 1
@en
prefLabel
3-methylcrotonyl-CoA carboxylase deficiency
@en
3-metylokrotonyloglicynuria
@pl
Isolierter Carboxylase-Mangel
@de
déficit en 3-méthylcrotonyl-CoA carboxylase
@fr
P279
P2888
P486
P6366
P1748
P2892
P486
P492
P5270
MONDO:0008861
P6366
2780163632
2909467804
P699
DOID:0050710