{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T20:13:24Z","timestamp":1760645604283},"reference-count":24,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1981,1,1]]},"DOI":"10.1136\/adc.56.1.53","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T21:33:49Z","timestamp":1229981629000},"page":"53-59","source":"Crossref","is-referenced-by-count":35,"title":["Inherited disorders of 3-methylcrotonyl CoA carboxylation."],"prefix":"10.1136","volume":"56","author":[{"given":"J V","family":"Leonard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J W","family":"Seakins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Bartlett","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Hyde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Clayton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","first-page":"521","article-title":"A new inborn error of metabolismLancet","volume":"ii:","author":"crotonylglycinuria","year":"1970","unstructured":"crotonylglycinuria. A new inborn error of metabolismLancet 1970; ii: 521-2."},{"key":"ref_2","first-page":"22","article-title":"Biotin responsive 3-methylcrotonylglycinuria","volume":"ii:","author":"Gompertz, D.; H, Draffan G.; L, Watts J.; Hull, D.","year":"1971","unstructured":"Gompertz D, Draffan G H, Watts J L, Hull D. Biotin responsive 3-methylcrotonylglycinuria. Lancet 1971; ii: 22-4.","journal-title":"Lancet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1136\/adc.48.12.975","article-title":"Child with a defect in leucine metabolism associated with fhydroxyisovaleric aciduria and,-methylcrotonylglycinuria","volume":"48","author":"Gompertz, D.; Bartlett, K.; Blair, D.; M, Stern C.M.","year":"1973","unstructured":"Gompertz D, Bartlett K, Blair D, Stern C M M. Child with a defect in leucine metabolism associated with fhydroxyisovaleric aciduria and,-methylcrotonylglycinuria. Arch Dis Child 1973; 48: 975-7.","journal-title":"Arch Dis Child"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/0009-8981(76)90155-8","article-title":"Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with deficiency of 3-methylcrotonyl CoA carboxylase","volume":"73","author":"A, Finnie M.D.; K, Cottrall; T, Seakins J.W.; W, Snedden","year":"1976","unstructured":"Finnie M D A, Cottrall K, Seakins J W T, Snedden W. Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with deficiency of 3-methylcrotonyl CoA carboxylase. Clin Chim Acta 1976; 73: 513-9.","journal-title":"Clin Chim Acta"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1136\/adc.51.8.636","article-title":"Organic aciduria. Treatable cause of floppy infant syndrome","volume":"51","author":"R, Keeton B.; A, Moosa","year":"1976","unstructured":"Keeton B R, Moosa A. Organic aciduria. Treatable cause of floppy infant syndrome. Arch Dis Child 1976; 51: 636-8.","journal-title":"Arch Dis Child"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/S0022-3476(76)80987-0","article-title":"Beta-methylcrotonic aciduria associated with lactic acidosis","volume":"88","author":"Roth, K.; Cohn, R.; Yandrasitz, J.; Preti, G.; Dodd, P.; Segal, S.","year":"1976","unstructured":"Roth K, Cohn R, Yandrasitz J, Preti G, Dodd P, Segal S. Beta-methylcrotonic aciduria associated with lactic acidosis. J Pediatr 1976; 88: 229-35.","journal-title":"J Pediatr"},{"key":"ref_7","first-page":"115","article-title":"Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity","volume":"ii:","author":"J, Cowan M.; W, Wara D.; S, Packman","year":"1979","unstructured":"Cowan M J, Wara D W, Packman S, et al. Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity. Lancet 1979; ii: 115-8.","journal-title":"Lancet"},{"key":"ref_8","first-page":"118","article-title":"Biotin-responsive alopecia and developmental regression","volume":"ii:","author":"Charles, B.; Hosking, G.; Green, A.; Pollitt, R.; Bartlett, K.; S, Taitz L.","year":"1979","unstructured":"Charles B, Hosking G, Green A, Pollitt R, Bartlett K, Taitz L S. Biotin-responsive alopecia and developmental regression. Lancet 1979; ii: 118-20.","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/BF00447377","article-title":"A case of biotin responsive 3-methylcrotonylglycinand 3-hydroxyisovaleric aciduria","volume":"132","year":"1979","unstructured":"A case of biotin responsive 3-methylcrotonylglycinand 3-hydroxyisovaleric aciduria. Eur J Pediatr 1979; 132: 107-14.","journal-title":"Eur J Pediatr"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0009-8981(76)90020-6","article-title":"The occurrence and identification of ohydroxyhippuric acid (salicyluric acid) in the urine of sick children","volume":"70","author":"A, Finnie M.D.; S, Ersser R.; T, Seakins J.W.","year":"1976","unstructured":"Finnie M D A, Ersser R S, Seakins J W T. The occurrence and identification of ohydroxyhippuric acid (salicyluric acid) in the urine of sick children. Clin Chim Acta 1976; 70: 171-8.","journal-title":"Clin Chim Acta"},{"key":"ref_11","first-page":"1140","article-title":"Localisation of enzymic defect in propionicacidaemia","volume":"i:","author":"A, E.","year":"1970","unstructured":"E A. Localisation of enzymic defect in propionicacidaemia. Lancet 1970; i: 1140-3.","journal-title":"Lancet"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/0014-5793(73)80723-9","article-title":"Evidence for the enzymic defect in 3-methylcrotonylglycinuria","volume":"32","author":"Gompertz, D.; A, Goodey P.; Bartlett, K.","year":"1973","unstructured":"Gompertz D, Goodey P A, Bartlett K. Evidence for the enzymic defect in 3-methylcrotonylglycinuria. FEBS Lett 1973; 32: 13-4.","journal-title":"FEBS Lett"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein measurement with Folin phenol reagent","volume":"193","year":"1951","unstructured":"Lowry 0 H, Rosebrough N J, Farr A L, Randall R J. Protein measurement with Folin phenol reagent. J Biol Chem 1951; 193: 265-75.","journal-title":"J Biol Chem"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/0009-8981(74)90040-0","article-title":"Increased urinary excretion of 3-hydroxyisovaleric acid in patients with ketoacidosis","volume":"54","author":"Landaas, S.","year":"1974","unstructured":"Landaas S. Increased urinary excretion of 3-hydroxyisovaleric acid in patients with ketoacidosis. Clin Chim Acta 1974; 54: 39-46.","journal-title":"Clin Chim Acta"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1542\/peds.52.1.83","article-title":"Isovaleric acidemia: results of family study and dietary treatment","volume":"52","author":"L, Levy H.; M, Erickson A.; T, Lott I.; J, Kuertz D.","year":"1973","unstructured":"Levy H L, Erickson A M, Lott I T, Kuertz D J. Isovaleric acidemia: results of family study and dietary treatment. Pediatrics 1973; 52: 83-94.","journal-title":"Pediatrics"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1016\/0009-8981(76)90160-1","article-title":"The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria","volume":"73","author":"F, Faull K.; D, Bolton P.; B, Halpern; J, Hammond; M, Danks D.","year":"1976","unstructured":"Faull K F, Bolton P D, Halpern B, Hammond J, Danks D M. The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria. Clin Chim Acta 1976; 73: 553-9.","journal-title":"Clin Chim Acta"},{"key":"ref_17","first-page":"680","article-title":"Letter: Phydroxy-p-methylglutaricaciduria presenting as Reye's syndrome","volume":"i:","author":"V, Leonard J.; T, Seakins J.W.; K, Griffin N.","year":"1979","unstructured":"Leonard J V, Seakins J W T, Griffin N K. Letter: Phydroxy-p-methylglutaricaciduria presenting as Reye's syndrome. Lancet 1979; i: 680.","journal-title":"Lancet"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.0954-6820.1958.tb01753.x","article-title":"Clinical biotin deficiency ('egg white injury')","volume":"162","author":"Scott, D.","year":"1958","unstructured":"Scott D. Clinical biotin deficiency ('egg white injury'). Acta Med Scand 1958; 162: 69-70.","journal-title":"Acta Med Scand"},{"key":"ref_19","article-title":"The vitamin co-factors of enzyme systems","author":"A, Robinson F.","year":"1966","unstructured":"Robinson F A. The vitamin co-factors of enzyme systems. Oxford: Pergamon, 1966."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/0009-8981(80)90081-9","article-title":"A combined defect of three mitochondrial carboxylases presenting as biotin responsive 3-methylcrotonylglycinuria and 3-hydroxyisovaleric aciduria","volume":"100","author":"Bartlett, K.; Ng, H.; V, Leonard J.","year":"1980","unstructured":"Bartlett K, Ng H, Leonard J V. A combined defect of three mitochondrial carboxylases presenting as biotin responsive 3-methylcrotonylglycinuria and 3-hydroxyisovaleric aciduria. Clin Chim Acta 1980; 100: 183-6.","journal-title":"Clin Chim Acta"},{"key":"ref_21","first-page":"1080","article-title":"Letter: Fatty-acid-responsive alopecia in multiple carboxylase deficiency","volume":"i:","author":"Munnich, A.; M, Saudubray J.; X, Coude F.; Charpentier, C.; H, Saurat J.; Frezal, J.","year":"1980","unstructured":"Munnich A, Saudubray J M, Coude F X, Charpentier C, Saurat J H, Frezal J. Letter: Fatty-acid-responsive alopecia in multiple carboxylase deficiency. Lancet 1980; i: 1080-1.","journal-title":"Lancet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/S0022-3476(80)80554-3","article-title":"Holocarboxylase synthetase deficiency: a biotin responsive organic acidaemia","volume":"96","author":"S, Roth K.; W, Yang; W, Foreman J.; S, Rothman R.Segal","year":"1980","unstructured":"Roth K S, Yang W, Foreman J W, Rothman R. Segal S. Holocarboxylase synthetase deficiency: a biotin responsive organic acidaemia. J Pediatr 1980; 96: 845-9.","journal-title":"J Pediatr"},{"key":"ref_23","article-title":"Selective IgA deficiency in sputum with normal concentrations of immunoglobulins in the serum and normal cellular immunity in a patient with multiple carboxylase deficiencies (3-methylcrotonylglycinuria) (abstract)","year":"1980","unstructured":"Rasmussen K, Steffensen 0, 0stergaard P, Gregersen N, Christensen E, K0lvraa S. Selective IgA deficiency in sputum with normal concentrations of immunoglobulins in the serum and normal cellular immunity in a patient with multiple carboxylase deficiencies (3-methylcrotonylglycinuria) (abstract). J Inherited Metabol Dis 1980; in press.","journal-title":"J Inherited Metabol Dis"},{"key":"ref_24","series-title":"Proctoscopy in infancy with reference to its use in necrotising enterocolitis","article-title":"The following articles will appear in future issues of this journal: Primary amoebic meningoencephalitis","author":"Cain, R.R.; Wiley, P.F.; Brownell, Betty; Warhurst, D.C.","unstructured":"The following articles will appear in future issues of this journal: Primary amoebic meningoencephalitis A R R Cain, P F Wiley, Betty Brownell, and D C Warhurst Proctoscopy in infancy with reference to its use in necrotising enterocolitis T R Fenton, J A Walker-Smith, and D R Harvey Collection of breath for hydrogen estimation A J Gardiner, M J Tarlow, I T Sutherland, and H G Sammons Isoimmune neonatal thrombocytopenic purpura P Galea, M J Patrick, and K M Goel Estimating the cots required for neonatal intensive care H Simpson and G Walker Annotation: Bronchodilator drugs in childhood asthma A D Milner"}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/adc.56.1.53","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T03:42:46Z","timestamp":1684813366000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/adc.56.1.53"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,1,1]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1981,1,1]]}},"URL":"https:\/\/doi.org\/10.1136\/adc.56.1.53","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[1981,1,1]]}}}