GTP-cyclohydrolase deficiency responsive to sapropterin and 5-HTP supplementation: Relief of treatment-refractory depression and suicidal behaviour

BMJ Case Reports

Volumn , Issue , 2011, Pages

  Pan, Lisa ^a   McKain, Brian William ^a   Madan Khetarpal, Suneeta ^b   Mcguire, Marianne ^b   Diler, Rasim S ^a   Perel, James M ^a   Vockley, Jerry ^b   Brent, David A ^a  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5 HYDROXYINDOLEACETIC ACID; 5 HYDROXYTRYPTOPHAN; CARBIDOPA; DOPAMINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; HOMOVANILLIC ACID; MOOD STABILIZER; NEOPTERIN; NEUROLEPTIC AGENT; PROMETHAZINE; PTERIN; RILUZOLE; SAPROPTERIN; SEROTONIN; SEROTONIN NORADRENALIN REUPTAKE INHIBITOR; SEROTONIN UPTAKE INHIBITOR; TETRAHYDROBIOPTERIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BEDTIME DOSAGE; CASE REPORT; CEREBROSPINAL FLUID LEVEL; DOPAMINE METABOLISM; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; DRUG DOSE TITRATION; DRUG RESPONSE; ELECTROCONVULSIVE THERAPY; FOLLOW UP; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE DEFICIENCY; HUMAN; INTELLIGENCE QUOTIENT; LABORATORY TEST; MAJOR DEPRESSION; MALE; MORNING DOSAGE; NAUSEA; PRIORITY JOURNAL; PROTEIN SYNTHESIS; REFERENCE VALUE; REMISSION; SEROTONIN METABOLISM; SUICIDAL BEHAVIOR; SUICIDAL IDEATION; SUICIDE ATTEMPT; TREATMENT FAILURE;

EID: 79959308906     PISSN: None     EISSN: 1757790X     Source Type: Journal    
DOI: 10.1136/bcr.03.2011.3927     Document Type: Article

References (5)

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2. Blau N, Barnes I, Dhondt JL. International database of tetrahydrobiopterin deficiencies. J Inherit Metab Dis 1996;19:8-14. (Pubitemid 26085559)
3. Thöny B, Blau N. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat 2006;27:870-8. (Pubitemid 44336936)
4. Burton BK, Grange DK, Milanowski A, et al. The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study. J Inherit Metab Dis 2007;30:700-7. (Pubitemid 47559882)
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