Disorder in the Serotonergic System due to Tryptophan Hydroxylation Impairment: A Cause of Hypothalamic Syndrome?

被引：7
作者：
Schott, D. A. [1 ]
Nicolai, J. [2 ]
de Vries, J. E. [3 ]
Keularts, I. M. L. W. [3 ]
Rubio-Gozalbo, M. E. [1 ,3 ]
Gerver, W. J. M. [1 ]
机构：
[1] Maastricht Univ Med Ctr, Dept Paediat, NL-6202 AZ Maastricht, Netherlands
[2] Maastricht Univ Med Ctr, Dept Neurol, Maastricht, Netherlands
[3] Maastricht Univ Med Ctr, Dept Biochem Genet, Maastricht, Netherlands
来源：
HORMONE RESEARCH IN PAEDIATRICS | 2010年 / 73卷 / 01期
关键词：
Serotonin; Tryptophan hydroxylase; Hypothalamus; TPH2; protein; Obesity; GONADOTROPIN-RELEASING-HORMONE; ONSET CENTRAL HYPOVENTILATION; ALVEOLAR HYPOVENTILATION; PRECOCIOUS PUBERTY; PINEAL-GLAND; DYSFUNCTION; RAT; ASSOCIATION; MELATONIN; CHILD;
D O I：
10.1159/000271918
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Background: The hypothalamus regulates basic homeostasis such as appetite, circadian rhythm, autonomic and pituitary functions. Dysregulation in these functions results in the hypothalamic syndrome, a rare disorder of various origins. Since serotonin (5-HT) modulates most of the above-mentioned homeostasis, a defect in the serotonergic system can possibly participate in this syndrome. Methods: We describe a girl suffering from hypothalamic syndrome with a decreased concentration of 5-hydroxytryptophan (5-HTP) and a normal level of tryptophan in the cerebrospinal fluid (CSF) suggesting a functional defect in tryptophan hydroxylase (TPH). TPH is a rate-limiting enzyme in the synthesis of the neurotransmitter 5-HT. Results: Therapeutic intervention with 5-HTP, carbidopa and a specific serotonin reuptake inhibitor significantly improved her clinical symptoms and caused biochemical normalisation of neurotransmitters. Conclusion: The girl described had the typical symptoms of a hypothalamic disorder and a defective serotonergic metabolism, a relationship which has not been reported before. Therapeutic interventions to restore 5-HT metabolism resulted in clinical improvement. We suggest that investigation of 5-HT metabolism in CSF of patients with this rare disorder is included in the aetiological work-up. Copyright (C) 2010 S. Karger AG, Basel
引用
收藏
页码：68 / 73
页数：6
相关论文
共 40 条
  • [1] TEMPERATURE RECEPTORS IN THE CENTRAL-NERVOUS-SYSTEM
    BOULANT, JA
    DEAN, JB
    [J]. ANNUAL REVIEW OF PHYSIOLOGY, 1986, 48 : 639 - 654
  • [2] SEROTONERGIC MODULATION OF THE RESPIRATORY RHYTHM GENERATOR AT BIRTH - AN INVITRO STUDY IN THE RAT
    DIPASQUALE, E
    MORIN, D
    MONTEAU, R
    HILAIRE, G
    [J]. NEUROSCIENCE LETTERS, 1992, 143 (1-2) : 91 - 95
  • [3] DUNGER DB, 1980, LANCET, V1, P1277
  • [4] DURIVAGE SK, 1985, PEDIATRICS, V75, P896
  • [5] PRIMARY ALVEOLAR HYPOVENTILATION SYNDROME (ONDINES CURSE) - ASSOCIATION WITH MANIFESTATIONS OF HYPOTHALMIC DISEASE
    FISHMAN, LS
    SAMSON, JH
    SPERLING, DR
    [J]. AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1965, 110 (02): : 155 - +
  • [6] SLEEP-APNEA AND HYPOVENTILATION SYNDROME ASSOCIATED WITH ACQUIRED NONPROGRESSIVE DYSAUTONOMIA - CLINICAL AND PATHOLOGICAL-STUDIES IN A CHILD
    FRANK, Y
    KRAVATH, RE
    INOUE, K
    HIRANO, A
    POLLAK, CP
    ROSENBERG, RN
    WEITZMAN, ED
    [J]. ANNALS OF NEUROLOGY, 1981, 10 (01) : 18 - 27
  • [7] Oestradiol stimulates prolactin secretion in women through oestrogen receptors
    Garas, A.
    Trypsianis, G.
    Kallitsaris, A.
    Milingos, S.
    Messinis, I. E.
    [J]. CLINICAL ENDOCRINOLOGY, 2006, 65 (05) : 638 - 642
  • [8] An update on neurochemistry and pharmacological therapy of the cerebellar ataxias
    Gazulla, J.
    [J]. REVISTA DE NEUROLOGIA, 2007, 45 (01) : 31 - 41
  • [9] GUREWITZ R, 1986, ACTA ENDOCR-COP S, V279, P468
  • [10] HAYEK A, 1982, PEDIATRICS, V70, P275
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