Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course

Journal of Child Neurology

Volumn 22, Issue 1, 2007, Pages 106-108

  Al Hassnan, Zuhair N ^a   Al Budhaim, Mustafa ^a   Al Owain, Mohammed ^a   Lach, Boleslaw ^a   Al Dhalaan, Hesham ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

Glycogen storage; Muscle phosphofructokinase; Neonatal seizure

Indexed keywords

6 PHOSPHOFRUCTOKINASE; CARBAMAZEPINE; CLONAZEPAM; LAMOTRIGINE; MYOGLOBIN; PHENYTOIN;

ARTHROGRYPOSIS; ARTICLE; AUDITORY SYSTEM EXAMINATION; CASE REPORT; CESAREAN SECTION; CHILD DEVELOPMENT; CLINICAL EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; DEATH; DELIVERY; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; ELECTROENCEPHALOGRAPHY; ENZYME DEFICIENCY; EPILEPTIC STATE; EVOKED AUDITORY RESPONSE; EXERCISE TOLERANCE; FOLLOW UP; GLYCOGEN STORAGE DISEASE TYPE 7; HUMAN; INTRACTABLE EPILEPSY; LANGUAGE ABILITY; MALE; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYOGLOBINURIA; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT REFERRAL; PHENOTYPE; PHYSICAL ACTIVITY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE; SIBLING; VISUAL SYSTEM EXAMINATION;

CHILD, PRESCHOOL; FAMILY HEALTH; FOLLOW-UP STUDIES; HUMANS; MALE; MUSCLE, SKELETAL; PHOSPHOFRUCTOKINASES; SEIZURES;

EID: 34249861002     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807299968     Document Type: Article

References (5)

1. Tarui S., Okuno G., Ikura Y., et al. Phosphofructokinase deficiency in skeletal muscle: A new type of glycogenosis. Biochem Biophys Res Commun. 1965; 19: 517-523.
2. Chen Y-T. Glycogen storage diseases. In: Scriver CR, BeaudetAL, Sly WS, Valle D, eds. The Metabolic & Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001: 1521-1551.
3. Guibaud P., Carrier H., Mathieu M., et al. Observation familiale destrophie musculaire congenitale par deficit en phosphofruktokinase. Arch Fr Peiatr. 1978; 35: 1105-1115.
4. Swoboda KJ, Specht L., Jones HR, et al. Infantile phosphofructokinase deficiency with arthrogryposis: Clinical benefit of a ketogenic diet. J Pediatr. 1997; 131: 932-934.
5. Raben N., Sherman JB Mutations in muscle phosphofructokinase gene. Hum Mutat. 1995; 6: 1-6.