Biotin-response Organicaciduria

Saunders, Mary; Sweetman, Lawrence; Robinson, Brian H.; Roth, Karl S.; Cohn, Roy; Gravel, Roy A.

doi:10.1172/jci109632

Cited by 88 publications

(13 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Second, we examined two mutant strains, designated bio, that show a multiple carboxylase deficiency and in which enzyme activity can be restored to normal in medium containing excess biotin (11). Complementation of the propionyl-CoA carboxylase deficiency was examined in fusions between these strains and with a pccBC mutant by microtechniques.…”

Section: Resultsmentioning

confidence: 99%

“…How-PEG as described in ever, when the bio mutants were fused to each other there was plated in plastic film no stimulation of isotope incorporation. (10,11), were examined for complementation by the whole-cell microtechnique. The results of fusions between the pccA and two pccBC mutants are given in Table 2, experiment 1.…”

Section: Resultsmentioning

confidence: 99%

“…The methods for the growth and maintenance of cultured fibroblasts have been described (10), except that antibiotic-free medium was used in the present experiments. The mutant strains were from individuals with propionicacidemia or biotin-responsive organicacidemia (10,11 For complementation studies involving biotin-responsive cells, all strains to be fused were grown in biotin-free medium for at least 2 weeks prior to fusion. The propionyl-CoA carboxylase activity of the mutant strains was reduced to background levels in this medium but remained normal in wild-type cells (11).…”

Section: Methodsmentioning

confidence: 99%

“…These include maple syrup urine disease (2), GM1 (3)(4)(5) and GM2 (6)(7)(8) gangliosidosis, xeroderma pigmentosum (9), propionicacidemia (10)(11)(12), and methylmalonicacidemia (13)(14). Complementation has usually been determined by assaying extracts of the complete fusion mixture (batch assay method) (2, 5-9, 12, 14) and comparing these results to those obtained by self-fusion or in unfused mixtures of cells.…”

mentioning

confidence: 99%

“…Here the results of individual multinucleate cells can be observed visually by light microscopy. In our own work on complementation we have used autoradiographic methods in the study of propionicacidemia (10,11) and methylmalonicacidemia (13) and histochemical methods for analysis of GM1 gangliosidosis, sialidosis (4), and I-cell disease (unpublished data). All of these methods represent unique approaches specific to the defect in question and are not generally available for most metabolic disorders.…”

mentioning

confidence: 99%

See 4 more Smart Citations

Analysis of genetic complementation by whole-cell microtechniques in fibroblast heterokaryons.

Gravel¹,

Leung²,

Saunders³

et al. 1979

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

mentioning

confidence: 99%

See 3 more Smart Citations

Analysis of genetic complementation by whole-cell microtechniques in fibroblast heterokaryons.

Gravel¹,

Leung²,

Saunders³

et al. 1979

Proc. Natl. Acad. Sci. U.S.A.

View full text Add to dashboard Cite

show abstract

Inborn Errors of Biotin Metabolism

Nyhan¹

1987

Arch Dermatol

View full text Add to dashboard Cite

The important role of biotin in human physiology has been highlighted by the recognition of two newly discovered human inborn errors of the metabolism of biotin. The molecular defect in the neonatal-onset disease is in the enzyme holocarboxylase synthetase. The defect in the later infantile-onset disease is in the enzyme biotinidase. Both disorders present with impressive clinical manifestations involving the skin and hair. In the neonatal disease, alopecia totalis is associated with a bright red scaly total body eruption. In biotinidase deficiency, the alopecia is more patchy and the skin lesions resemble acrodermatitis enteropathica. Both disorders are complicated by recurrent episodes of life-threatening acidosis and massive ketosis.

show abstract