Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (γ-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of γ-hydroxybutyric acid pharmacology

Journal of Inherited Metabolic Disease

Volumn 30, Issue 3, 2007, Pages 279-294

  Knerr, I ^a,g   Pearl, P L ^b,c   Bottiglieri, T ^d   Carter Snead, O ^e   Jakobs, C ^f   Gibson, K Michael ^g  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^g CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

3 AMINOPROPYL(DIETHOXYMETHYL)PHOSPHINIC ACID; 3 AMINOPROPYLBUTYLPHOSPHINIC ACID; 3 HYDROXYBENZYLHYDRAZINE; 4 AMINOBUTYRIC ACID; 4 HYDROXYBUTYRIC ACID; 6 DIAZO 5 OXONORLEUCINE; ACAMPROSATE; ALPHA TOCOPHEROL; ANTIOXIDANT; BACLOFEN; BENZODIAZEPINE DERIVATIVE; CARBAMAZEPINE; DEXTROMETHORPHAN; DOCOSAHEXAENOIC ACID; ETHOSUXIMIDE; FINASTERIDE; GLUTAMINE; MELATONIN; METHYLPHENIDATE; PARGYLINE; PHENOBARBITAL; PHENYTOIN; PRIMIDONE; SELEGILINE; SUCCINATE SEMIALDEHYDE DEHYDROGENASE; TAURINE; UNINDEXED DRUG; URIDINE; VALPROIC ACID; VIGABATRIN;

4 AMINOBUTYRIC ACID METABOLISM; ABSENCE; ALCOHOLISM; AMINO ACID SUBSTITUTION; ANTICONVULSANT ACTIVITY; ANTIOXIDANT ACTIVITY; ATTENTION DEFICIT DISORDER; AUTOSOMAL RECESSIVE DISORDER; BEHAVIOR DISORDER; CENTRAL NERVOUS SYSTEM; CHROMOSOME 6P; DIET SUPPLEMENTATION; DRUG MECHANISM; DRUG MEGADOSE; EPILEPTIC STATE; FOCAL EPILEPSY; GABAERGIC SYSTEM; GENE DELETION; GRAND MAL SEIZURE; HUMAN; KETOGENIC DIET; NEUROPROTECTION; NEUROTRANSMISSION; NONHUMAN; PARKINSON DISEASE; PATHOPHYSIOLOGY; PATIENT ASSESSMENT; PHENOTYPE; PSYCHOMOTOR RETARDATION; RECEPTOR BLOCKING; REVIEW; SEIZURE; SPASTICITY; SPEECH DISORDER; SUCCINATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; VISUAL FIELD DEFECT;

AMINO ACID METABOLISM, INBORN ERRORS; ANIMALS; ANTICONVULSANTS; DISEASE MODELS, ANIMAL; GAMMA-AMINOBUTYRIC ACID; HUMANS; MICE; MICE, KNOCKOUT; PHENOTYPE; SODIUM OXYBATE; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 34249990853     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0574-2     Document Type: Review

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