Succinic semialdehyde dehydrogenase deficiency in siblings: Clinical heterogeneity acid response to early treatment

Journal of Inherited Metabolic Disease

Volumn 22, Issue 2, 1999, Pages 198-199

  Peters, H ^a   Cleary, M ^a,b   Boneh, A ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID; 4 HYDROXYBUTYRIC ACID; ANTICONVULSIVE AGENT; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; VIGABATRIN;

AGGRESSION; ARTICLE; ATAXIA; CASE REPORT; CHILD; ENZYME DEFICIENCY; HUMAN; HYPERKINESIA; INFANT; MALE; MUSCLE HYPOTONIA; NEWBORN; PSYCHOMOTOR DISORDER; SEIZURE;

ADOLESCENT; ALDEHYDE OXIDOREDUCTASES; HUMANS; INFANT, NEWBORN; MALE; METABOLISM, INBORN ERRORS; NUCLEAR FAMILY; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 0032924782     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005439111908     Document Type: Article

References (3)

1. Gibson KM, Christensen E, Jakobs C, et al (1997) The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics 99: 567-574.
2. Gibson KM, Hoffmann GF, Hodson AK, Bottiglieri T, Jakobs C (1998) 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics 29: 14-22.
3. Pitt JJ, Hawkins R, Cleary M, et al (1997) Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate. J Inher Metab Dis 20: 39-42.