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[Multiple carboxylase deficiency].
Ugeskr Laeger 1998; 160(8):1151-7UL

Abstract

Biotinidase deficiency and holocarboxylase synthetase deficiency are two autosomal recessively inherited disorders of biotin metabolism affecting children below the age of two years. Both cause multiple carboxylase deficiency resulting in defects of fatty acid synthesis, gluconeogenesis and amino acid catabolism. The clinical picture involves the nervous system, the skin, the respiratory system, the digestive system and the immune system, but great individual variations often makes the clinical diagnosis difficult. Early diagnosis and treatment with biotin are essential in order to prevent death from metabolic acidosis or irreversible damage to the central nervous system. Two patients with biotinidase deficiency, two patients with holocarboxylase synthetase deficiency and a review of the literature are presented. Neonatal screening for biotinidase deficiency or a higher degree of metabolic screening of the urine in children below the age of one year with seizures and unexplained clinical course are discussed.

Authors+Show Affiliations

H:S Rigshospitalet, Juliane Marie Centret, afsnit for klinisk genetik.No affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article
Review

Language

dan

PubMed ID

9492625

Citation

Andersen, J B., et al. "[Multiple Carboxylase Deficiency]." Ugeskrift for Laeger, vol. 160, no. 8, 1998, pp. 1151-7.
Andersen JB, Haagerup A, Christensen E. [Multiple carboxylase deficiency]. Ugeskr Laeg. 1998;160(8):1151-7.
Andersen, J. B., Haagerup, A., & Christensen, E. (1998). [Multiple carboxylase deficiency]. Ugeskrift for Laeger, 160(8), pp. 1151-7.
Andersen JB, Haagerup A, Christensen E. [Multiple Carboxylase Deficiency]. Ugeskr Laeg. 1998 Feb 16;160(8):1151-7. PubMed PMID: 9492625.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Multiple carboxylase deficiency]. AU - Andersen,J B, AU - Haagerup,A, AU - Christensen,E, PY - 1998/3/11/pubmed PY - 1998/3/11/medline PY - 1998/3/11/entrez SP - 1151 EP - 7 JF - Ugeskrift for laeger JO - Ugeskr. Laeg. VL - 160 IS - 8 N2 - Biotinidase deficiency and holocarboxylase synthetase deficiency are two autosomal recessively inherited disorders of biotin metabolism affecting children below the age of two years. Both cause multiple carboxylase deficiency resulting in defects of fatty acid synthesis, gluconeogenesis and amino acid catabolism. The clinical picture involves the nervous system, the skin, the respiratory system, the digestive system and the immune system, but great individual variations often makes the clinical diagnosis difficult. Early diagnosis and treatment with biotin are essential in order to prevent death from metabolic acidosis or irreversible damage to the central nervous system. Two patients with biotinidase deficiency, two patients with holocarboxylase synthetase deficiency and a review of the literature are presented. Neonatal screening for biotinidase deficiency or a higher degree of metabolic screening of the urine in children below the age of one year with seizures and unexplained clinical course are discussed. SN - 0041-5782 UR - https://www.unboundmedicine.com/medline/citation/9492625/[Multiple_carboxylase_deficiency]_ DB - PRIME DP - Unbound Medicine ER -