{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:56:32Z","timestamp":1780354592411,"version":"3.54.1"},"reference-count":14,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[1989,4,1]],"date-time":"1989-04-01T00:00:00Z","timestamp":607392000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[1989,4]]},"abstract":"<jats:p>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).<\/jats:p>","DOI":"10.1177\/088307388900400203","type":"journal-article","created":{"date-parts":[[2009,9,15]],"date-time":"2009-09-15T15:05:50Z","timestamp":1253027150000},"page":"95-99","source":"Crossref","is-referenced-by-count":29,"title":["Recurrent Myoglobinuria in a Child With Mental Retardation: Phosphoglycerate Kinase Deficiency"],"prefix":"10.1177","volume":"4","author":[{"given":"Hideo","family":"Sugie","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Sugie","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuhiro","family":"Nishida","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masataka","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Tsurui","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Suzuki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiko","family":"Miyamoto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshio","family":"Igarashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[1989,4,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.6.584"},{"key":"atypb2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(80)90013-3"},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410130104"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880030302"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1967.00470290066009"},{"key":"atypb6","unstructured":"Bergmeyer HU, Gawehn K., Grassl M.: Enzymes as biochemical reagents, in Bergmeyer HU (ed): Methods of Enzymatic Analysis, vol 1 . New York, Academic Press, 1974, pp 425-522."},{"key":"atypb7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1977.tb00589.x"},{"key":"atypb8","first-page":"364","volume":"32","author":"Krietch WKG","year":"1980","journal-title":"Am J Hum Genet"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)36985-6"},{"key":"atypb10","first-page":"95","volume":"89","author":"Norum KR","year":"1964","journal-title":"Biochem Biophys Acta"},{"key":"atypb11","volume-title":"Muscle Biopsy: A Modern Approach","author":"Dubowitz V.","year":"1973"},{"key":"atypb12","unstructured":"DiMauro S., Bresolin N.: Newly recognized defects in distal glycolysis, in Engel AG , Banker BQ (eds): Myology. New York, McGraw-Hill , 1986, pp 1619-1628."},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V60.1.84.84"},{"key":"atypb14","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.2.472"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307388900400203","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307388900400203","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:38:03Z","timestamp":1777495083000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/088307388900400203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,4]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1989,4]]}},"alternative-id":["10.1177\/088307388900400203"],"URL":"https:\/\/doi.org\/10.1177\/088307388900400203","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,4]]}}}