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Multiple carboxylase deficiency due to deficiency of biotinidase.
J Neurogenet 1986; 3(6):357-63JN

Abstract

A patient with biotinidase deficiency was studied in whom the first admission to hospital for acidosis occurred at 5 years of age. Sensorineural abnormalities of the optic and auditory nerves antedated diagnosis and treatment with biotin, and these sensory losses did not resolve with treatment. The other clinical manifestations of the disease were highly responsive to biotin. Biotinidase was assayed using 14C-labeled natural substrate. The activity in the patient approximated 1% of the control level.

Authors

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Pub Type(s)

Case Reports
Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

3783319

Citation

Thuy, L P., et al. "Multiple Carboxylase Deficiency Due to Deficiency of Biotinidase." Journal of Neurogenetics, vol. 3, no. 6, 1986, pp. 357-63.
Thuy LP, Zielinska B, Zammarchi E, et al. Multiple carboxylase deficiency due to deficiency of biotinidase. J Neurogenet. 1986;3(6):357-63.
Thuy, L. P., Zielinska, B., Zammarchi, E., Pavari, E., Vierucci, A., Sweetman, F., ... Nyhan, W. L. (1986). Multiple carboxylase deficiency due to deficiency of biotinidase. Journal of Neurogenetics, 3(6), pp. 357-63.
Thuy LP, et al. Multiple Carboxylase Deficiency Due to Deficiency of Biotinidase. J Neurogenet. 1986;3(6):357-63. PubMed PMID: 3783319.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Multiple carboxylase deficiency due to deficiency of biotinidase. AU - Thuy,L P, AU - Zielinska,B, AU - Zammarchi,E, AU - Pavari,E, AU - Vierucci,A, AU - Sweetman,F, AU - Sweetman,L, AU - Nyhan,W L, PY - 1986/11/1/pubmed PY - 1986/11/1/medline PY - 1986/11/1/entrez SP - 357 EP - 63 JF - Journal of neurogenetics JO - J. Neurogenet. VL - 3 IS - 6 N2 - A patient with biotinidase deficiency was studied in whom the first admission to hospital for acidosis occurred at 5 years of age. Sensorineural abnormalities of the optic and auditory nerves antedated diagnosis and treatment with biotin, and these sensory losses did not resolve with treatment. The other clinical manifestations of the disease were highly responsive to biotin. Biotinidase was assayed using 14C-labeled natural substrate. The activity in the patient approximated 1% of the control level. SN - 0167-7063 UR - https://www.unboundmedicine.com/medline/citation/3783319/Multiple_carboxylase_deficiency_due_to_deficiency_of_biotinidase_ L2 - http://babysfirsttest.org/newborn-screening/conditions/biotinidase-deficiency DB - PRIME DP - Unbound Medicine ER -