Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency
β Scribed by Yoko Aoki; X. Li; Osamu Sakamoto; Masahiro Hiratsuka; Hiroshi Akaishi; Liquing Xu; Paz Briones; Terttu Suormala; E. Regula Baumgartner; Y. Suzuki; Kuniaki Narisawa
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 113 KB
- Volume
- 104
- Category
- Article
- ISSN
- 0340-6717
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π SIMILAR VOLUMES
Multiple carboxylase deficiency is a clinical condition caused by defects in the enzymes involved in biotin metabolism, holocarboxylase synthetase (HLCS) or biotinidase. HLCS deficiency is a potentially fatal condition if left untreated, although the majority of patients respond to oral supplementat
## Communicated by Mark H. Paalman Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive error of creatine synthesis characterized by cerebral creatine deficiency, accumulation of guanidinoacetate, mental retardation, epilepsy and extrapyramidal signs. So far, six mutation