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Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset.
J Pediatr 1982; 101(4):546-50JPed

Abstract

Two patients with biotin-responsive multiple carboxylase deficiency, both presenting with predominant lactic acidosis, are reported. One with disease of early neonatal onset had considerable acute neurologic and persistent dermatologic abnormalities. The other, with late juvenile-onset disease, had chronic neurologic abnormalities without dermatologic findings. Early-onset cases generally have been associated with holocarboxylase synthetase deficiency, whereas those of juvenile onset have been characterized as representing defects in intestinal biotin absorption. However, enzyme analyses of fibroblasts from both patients, grown in biotin-deficient medium, revealed markedly diminished activities of pyruvate, propionyl-CoA, and beta-methylcrotonyl-CoA carboxylases, and all three enzymes showed normal activities after growth in biotin-rich medium. Furthermore, lymphoblast enzyme analysis in the patient with disease of early onset had previously revealed a defect in holocarboxylase synthetase, and fibroblast complementation studies showed that both patients belong to the bio complementation group. These findings indicate that considerable clinical heterogeneity exists among patients with holocarboxylase synthetase deficiency, an observation which does not permit differentiation of the biochemical forms of multiple carboxylase deficiency on the basis of age at onset and clinical presentation.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

6811711

Citation

Sherwood, W G., et al. "Lactic Acidosis in Biotin-responsive Multiple Carboxylase Deficiency Caused By Holocarboxylase Synthetase Deficiency of Early and Late Onset." The Journal of Pediatrics, vol. 101, no. 4, 1982, pp. 546-50.
Sherwood WG, Saunders M, Robinson BH, et al. Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. J Pediatr. 1982;101(4):546-50.
Sherwood, W. G., Saunders, M., Robinson, B. H., Brewster, T., & Gravel, R. A. (1982). Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. The Journal of Pediatrics, 101(4), pp. 546-50.
Sherwood WG, et al. Lactic Acidosis in Biotin-responsive Multiple Carboxylase Deficiency Caused By Holocarboxylase Synthetase Deficiency of Early and Late Onset. J Pediatr. 1982;101(4):546-50. PubMed PMID: 6811711.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. AU - Sherwood,W G, AU - Saunders,M, AU - Robinson,B H, AU - Brewster,T, AU - Gravel,R A, PY - 1982/10/1/pubmed PY - 1982/10/1/medline PY - 1982/10/1/entrez SP - 546 EP - 50 JF - The Journal of pediatrics JO - J. Pediatr. VL - 101 IS - 4 N2 - Two patients with biotin-responsive multiple carboxylase deficiency, both presenting with predominant lactic acidosis, are reported. One with disease of early neonatal onset had considerable acute neurologic and persistent dermatologic abnormalities. The other, with late juvenile-onset disease, had chronic neurologic abnormalities without dermatologic findings. Early-onset cases generally have been associated with holocarboxylase synthetase deficiency, whereas those of juvenile onset have been characterized as representing defects in intestinal biotin absorption. However, enzyme analyses of fibroblasts from both patients, grown in biotin-deficient medium, revealed markedly diminished activities of pyruvate, propionyl-CoA, and beta-methylcrotonyl-CoA carboxylases, and all three enzymes showed normal activities after growth in biotin-rich medium. Furthermore, lymphoblast enzyme analysis in the patient with disease of early onset had previously revealed a defect in holocarboxylase synthetase, and fibroblast complementation studies showed that both patients belong to the bio complementation group. These findings indicate that considerable clinical heterogeneity exists among patients with holocarboxylase synthetase deficiency, an observation which does not permit differentiation of the biochemical forms of multiple carboxylase deficiency on the basis of age at onset and clinical presentation. SN - 0022-3476 UR - https://www.unboundmedicine.com/medline/citation/6811711/Lactic_acidosis_in_biotin_responsive_multiple_carboxylase_deficiency_caused_by_holocarboxylase_synthetase_deficiency_of_early_and_late_onset_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-3476(82)80697-5 DB - PRIME DP - Unbound Medicine ER -