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Multiple carboxylase deficiency/holocarboxylase synthetase deficiency
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
The first patient described with this disorder [1] was recognized as having an abnormality of leucine metabolism by the identification of 3-methylcrotonylglycine and 3-hydroxyisovaleric acid in the urine. When we found that methylcitric and hydroxypropionic acids were also excreted by the same patient [2], enzymatic analysis revealed defective activity of propionyl CoA carboxylases [3], as well as 3-methylcrotonyl CoA carboxylase [4]. The third mitochondrial carboxylase, pyruvate carboxylase, was also shown to be defective in activity [5]. The disorder was then renamed “multiple carboxylase deficiency” (Figure 6.2). It is now clear that there are two distinct disorders in which there is multiple carboxylase deficiency: holocarboxylase synthetase (HCS) deficiency (Figure 6.1) [6], which was the defect in the initial patient, and biotinidase deficiency (Chapter 7).
Brittle Nails
Published in Nilton Di Chiacchio, Antonella Tosti, Therapies for Nail Disorders, 2020
Biotin is a water-soluble vitamin component of the B complex that acts as a coenzyme for several human carboxylases. Biotin deficiency is exceedingly rare and may be inherited or acquired. Acquired forms may occur in cases of severe malnutrition, total parenteral nutrition without biotin supplementation, long-term anticonvulsant or antibiotic therapy, and ingestion of raw egg whites. Inherited conditions include biotinidase deficiency and multiple carboxylase deficiency.
Diseased States in Man and Other Vertebrates
Published in D. B. Keech, J. C. Wallace, Pyruvate Carboxylase, 2018
The mechanism of inheritance of PCD has been investigated by measuring the activity of pyruvate carboxylase in cultured fibroblasts, lymphocytes, and leukocytes obtained from members of the families of patients with a deficiency of the enzyme. For two patients, PC (Portland) and PC (St. Louis), the activity of pyruvate carboxylase in cells obtained from the parents and a sister was decreased (Figure 3).32,230 The results were found to be consistent with inheritance of the defect in an autosomal recessive manner (Figure 3).32 The mutation which leads to inherited PCD has been designated pyc.273 Genetic complementation studies conducted with fibroblast cell lines derived from patients deficient in pyruvate carboxylase and from two patients with biotin-responsive multiple carboxylase deficiency have indicated that the locus pyc is separate from the loci of mutations for biotin-responsive multiple carboxylase deficiency (bio).273
Biotin for the treatment of nail disease: what is the evidence?
Published in Journal of Dermatological Treatment, 2018
Shari R. Lipner, Richard K. Scher
Several observations in animals and cells lines led to the hypothesis that biotin could be used to treat human nails. For example, biotin deficiency in swine results in hooves that are brittle, weak, and necrotic and biotin supplementation reverses these changes. This vitamin also improves the strength and hardness of pig claws and equine hoofs even in animals that are not biotin deficient (18–21). In addition, human nails share similarity with animal hooves and claws, in that they are all composed of keratin (22). In humans, insufficient biotin affects multiple organ systems resulting in dermatitis, seizures, vomiting, hypotonia, ataxia, and developmental delay (23,24). Biotin deficiency is exceedingly rare and may be inherited or acquired. Acquired forms may occur in cases of severe malnutrition, total parenteral nutrition without biotin supplementation, long-term anticonvulsant or antibiotic therapy, and ingestion of raw egg whites. Inherited conditions include biotinidase deficiency and multiple carboxylase deficiency. Oral supplementation improves these symptoms and if is infested early is often lifesaving (25). Oral and intravenous biotin has also been shown to have a beneficial effect on atopic dermatitis and cutaneous psoriasis (26,27). In addition, in a keratinocyte cell line, pharmacological biotin concentrations caused upregulation of cytokeratin’s. It also stimulated epidermal cell differentiation and helped to maintain epidermal cell growth (28). A summary of case reports and clinical trials with biotin to treat nail disorders is shown in Table 2.
Inherited hyperammonemias: a Contemporary view on pathogenesis and diagnosis
Published in Expert Opinion on Orphan Drugs, 2018
Evelina Maines, Giovanni Piccoli, Antonia Pascarella, Francesca Colucci, Alberto B. Burlina
CA-VA deficiency (OMIM #615751) results in dysfunction of all four mitochondrial enzymes to which CA-VA provides bicarbonate as substrate (carbamoylphosphate synthetase 1 [CPS1] and three biotin-dependent carboxylases). It leads to hyperammonemia combined with hyperlactatemia and metabolites suggestive of multiple carboxylase deficiency [7].