[Biotin-responsive multiple carboxylase deficiency].
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Biotin↗
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Results for “Multiple Carboxylase Deficiency”
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Neonatal form of biotin-responsive multiple carboxylase deficiency.
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Animals↗
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy.
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Asian People↗
Multiple carboxylase deficiency due to deficiency of biotinidase.
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.
Amidohydrolases↗
Biotin-responsive multiple carboxylase deficiency (MCD): deficient biotinidase activity associated with renal loss of biotin.
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Amidohydrolases↗
Lipid metabolism in biotin-responsive multiple carboxylase deficiency.
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Acetates↗
Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.
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Biotin↗
Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts.
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Adenosine Monophosphate↗
The neonatal form of biotin-responsive multiple carboxylase deficiency.
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Amino Acid Metabolism, Inborn Errors↗
Biotin-responsive multiple carboxylase deficiency of infantile onset.
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Amino Acid Metabolism, Inborn Errors↗
Fatty-acid-responsive alopecia in multiple carboxylase deficiency.
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Alopecia↗
Defective biotin absorption in multiple carboxylase deficiency.
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Acyl Coenzyme A↗
Protein-bound biotin: a consideration in multiple carboxylase deficiency.
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Adult↗
Prenatal treatment of biotin responsive multiple carboxylase deficiency.
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Amniocentesis↗
Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency.
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Biotin↗
Prenatal treatment of multiple carboxylase deficiency.
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Biotin↗
Biotin-responsive multiple carboxylase deficiency and immunodeficiency.
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Amidohydrolases↗
Infantile multiple carboxylase deficiency: evidence for normal intestinal absorption but renal loss of biotin.
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Biotin↗