Recurrent myoglobinuria in a child with mental retardation: phosphoglycerate kinase deficiency
| Autor: | Hideo Sugie, Reiko Miyamoto, Yoko Sugie, Makoto Suzuki, Mitsuhiro Nishida, Masataka Ito, Yoshio Igarashi, Satoshi Tsurui |
|---|---|
| Rok vydání: | 1989 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Biopsy Mentally retarded Rhabdomyolysis 03 medical and health sciences 0302 clinical medicine Forearm Recurrence 030225 pediatrics Intellectual Disability Convulsion medicine Humans Child Genetics Phosphoglycerate Kinase Deficiency business.industry Muscles Recurrent myoglobinuria Myoglobinuria medicine.disease Hemolysis Microscopy Electron Phosphoglycerate Kinase medicine.anatomical_structure Pediatrics Perinatology and Child Health Neurology (clinical) medicine.symptom business Glycolysis 030217 neurology & neurosurgery |
| Zdroj: | Journal of child neurology. 4(2) |
| ISSN: | 0883-0738 |
| Popis: | We report the case of an 11-year-old mentally retarded boy with recurrent myoglobinuria precipitated after a generalized tonic-clonic convulsion. No hemolysis was noted. Ischemic forearm test revealed no rise of venous lactate, suggesting a metabolic defect in an anaerobic glycolytic pathway. Histochemistry studies of the quadriceps muscle showed a normal appearance, but electron microsopy confirmed a moderate increase of the glycogen content in muscle. Direct measurement of glycolytic enzymes demonstrated a marked decrease of phosphoglycerate kinase (PGK) activity in muscle (4.4% of control mean) and hemolysate (8% of control mean). Enzyme characteristics of PGK from our patient (PGK Hamamatsu) using hemolysate demonstrated that it had normal Michaelis constants (Km), normal thermal stability, and a normal pH curve. The reason that hemolytic anemia was absent is uncertain. We concluded that a systematic enzyme analysis of the glycolytic pathway, especially of PGK, should be performed on myoglobinuric patients who are males, or who have an X-linked inheritance as suggested by the family history. ( J Child Neurol 1989;4:95-99). |
| Databáze: | OpenAIRE |
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