A case of benign pyruvate carboxylase deficiency with normal development
| Autor: | R. W. Logan, M. D. Rae, J. Hamilton, Peter H. Robinson |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
Male
medicine.medical_specialty Hydrocortisone Pyruvate carboxylase deficiency Infant Fibroblasts Biology medicine.disease Pyruvate Carboxylase Deficiency Disease Pyruvate carboxylase Endocrinology Growth Hormone Lactic acidosis Internal medicine Genetics medicine Humans Lymphocytes Genetics (clinical) Skin PC deficiency |
| Zdroj: | Journal of Inherited Metabolic Disease. 20:401-403 |
| ISSN: | 0141-8955 |
| DOI: | 10.1023/a:1005350600278 |
| Popis: | Pyruvate carboxylase (PC) deficiency (McKusick 266150) generally presents in two forms, the infantile form (type A) and the neonatal form (type B). The predominant features of the disorder include lactic acidosis and mental retardation. One case has been reported of a benign variant with nearly normal development (Van Coster et al 1991). We report a second case of benign PC deficiency with absence of neurological features and completely normal development. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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