Infantile hypertrophic cardiomyopathy of glycogenosis type IX: Isolated cardiac phosphorylase kinase deficiency

Pediatric Cardiology

Volumn 20, Issue 4, 1999, Pages 304-307

  Regalado, J J ^a   Rodriguez, M M ^a   Ferrer, P L ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Glycogen storage disease type IX; Infantile hypertrophic cardiomyopathy; Phosphorylase kinase deficiency

Indexed keywords

GLYCOGEN; PHOSPHORYLASE KINASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; ENZYME DEFICIENCY; FATALITY; FEMALE; GLYCOGEN METABOLISM; GLYCOGEN STORAGE DISEASE; HEART MUSCLE BIOPSY; HEART TRANSPLANTATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INFANT; MALE; PR INTERVAL; QRS COMPLEX;

AUTOPSY; CARDIOMYOPATHY, HYPERTROPHIC; FATAL OUTCOME; FEMALE; GLYCOGEN STORAGE DISEASE; HUMANS; INFANT, NEWBORN; MALE; MYOCARDIUM; PHOSPHORYLASE KINASE;

EID: 0033067986     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s002469900471     Document Type: Article

References (11)

1. Eishi Y, Takemura T, Sone R, et al. (1985) Glycogen storage disease confined to the heart with deficient activity of cardiac phosphorylase kinase: a new type of glycogen storage disease. Hum Pathol 16:193-197
2. Elleder M, Shin YS, Zuntova A, Vojtovic P, Chalupecky V (1993) Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase. Virchows Archiv A Pathol Anat 423:303-307
3. Hendrickx J, Willems PJ (1996) Genetic deficiencies of the glycogen phosphorylase system. Hum Genet 97:551-556
4. Kohlschutter A, Hausdorf G (1986) Primary (genetic) cardiomyopathies in infancy. A survey of possible disorders and guidelines for diagnosis. Eur J Pediatr 145:454-459
5. Mizuta K, Hashimoto E, Tsutou A, et al. (1984) A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase. Biochem Biophys Res Commun 119:582-587
6. Servidei S, Bertini E, DiMauro S (1994) Hereditary metabolic cardiomyopathies. Adv Pediatr 41:1-32
7. Servidei S, Metlay LA, Chodosh J, DiMauro S (1988) Fatal infantile cardiomyopathy caused by phosphorylase b kinase deficiency. J Pediatr 113:82-85
8. Skinner JR, Manzoor A, Hayes AM, Joffe HS, Martin RP (1997) A regional study of presentation and outcome of hypertrophic cardiomyopathy in infants. Heart 77:229-233
9. Suda K, Kohl T, Kovalchin JP, Silverman NH (1997) Echocardiographic predictors of poor outcome in infants with hypertrophic cardiomyopathy. Am J Cardiol 80:595-600
10. van den Berg IET, Berger R (1990) Phosphorylase b kinase deficiency in man: a review. J Inher Metab Dis 13:442-451
11. Wehner M, Clemens PR, Engel AG, Kilimann MW (1994) Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the α subunit. Hum Mol Genet 3:1983-1987