Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy
| Autor: | Audrey Boutron, Saudubray Jm, Frédéric Sedel, Challe G, Bertrand Fontaine, Brivet M, Mayer Jm |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
Ataxia Psychomotor retardation biology business.industry medicine.disease Pyruvate dehydrogenase complex Pyruvate dehydrogenase deficiency E3 binding protein Psychiatry and Mental health Peripheral neuropathy Endocrinology Internal medicine Lactic acidosis biology.protein Medicine Surgery Thiamine Neurology (clinical) medicine.symptom business |
| Zdroj: | Journal of Neurology, Neurosurgery & Psychiatry. 79:846-847 |
| ISSN: | 0022-3050 |
| DOI: | 10.1136/jnnp.2007.136630 |
| Popis: | Pyruvate dehydrogenase complex (PDHc) is a thiamine dependent key enzyme for energy production which catalyses decarboxylation of pyruvate into acetyl CoA for the Krebs cycle.1 PDHc deficiency is generally (80%) caused by mutations in the E1α subunit gene, PDHA1 , located on chromosome Xp22.1, but other genes have been reported to be mutated (eg, PDHX , encoding the E3 binding protein, DLAT , encoding the E2 subunit PDHX, and PDHB , encoding the E1 beta subunit). The disease usually presents with lactic acidosis, psychomotor retardation and Leigh syndrome leading to death or severe handicap in infancy or childhood.1 Mild forms, compatible with surviving into adulthood, have rarely been reported. A 26-year-old man was born at 8 months’ gestation, following maternal eclampsia. His psychomotor development was normal. From the age of 2 years he suffered from paroxysmal walking difficulties that appeared exclusively during fever episodes. These “crises” lasted from several hours to days during which he experienced limb weakness and ataxia. One episode was remarkable for blurring of consciousness and another for external ophthalmoplegia. Episodes persisted until adulthood at a frequency of approximately 1 per year. In between crises, the patient had kyphoscoliosis, absent tendon reflexes, pes cavus and mild … |
| Databáze: | OpenAIRE |
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