Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency View Full Text


Ontology type: schema:Chapter      Open Access: True


Chapter Info

DATE

2015

AUTHORS

Matthias Zielonka , Nawal Makhseed , Nenad Blau , Markus Bettendorf , Georg Friedrich Hoffmann , Thomas Opladen

ABSTRACT

Sepiapterin reductase (SR) deficiency is a rare autosomal recessively inherited error of tetrahydrobiopterin (BH4) biosynthesis, resulting in disturbed dopaminergic and serotonergic neurotransmission. The clinical phenotype is characterized by dopa-responsive movement disorders including muscular hypotonia, dystonia, and parkinsonism. Due to the rarity of the disease, the phenotype of SR deficiency is far from being completely understood. Here, we report a 7-year-old boy, who was referred for diagnostic evaluation of combined psychomotor retardation, spastic tetraplegia, extrapyramidal symptoms, and short stature. Due to discrepancy between motor status and mental condition, analyses of biogenic amines and pterins in CSF were performed, leading to the diagnosis of SR deficiency. The diagnosis was confirmed by a novel homozygous mutation c.530G>C; p.(Arg177Pro) in exon 2 of the SPR gene. Because of persistent short stature, systematic endocrinological investigations were initiated. Insufficient growth-hormone release in a severe hypoglycemic episode after overnight fasting confirmed growth-hormone deficiency as a cause of short stature. In addition, central hypothyroidism was present. A general hypothalamic affection could be excluded. Since dopamine is known to regulate growth-hormone excretion, IGF-1, IGF-BP3, and peripheral thyroid hormone levels were monitored under L-dopa/carbidopa supplementation. Both growth-hormone-dependent factors and thyroid function normalized under treatment. This is the first report describing growth-hormone deficiency and central hypothyroidism in SR deficiency. It extends the phenotypic spectrum of the disease and identifies dopamine depletion as cause for the endocrinological disturbances. More... »

PAGES

109-13

References to SciGraph publications

  • 2012-11. An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1999-06. Inborn errors of neurotransmitter receptors in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2004-03. Pediatric neurotransmitter diseases in CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
  • 2009-06. Aromatic l-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1999-06. Neurochemistry and defects of biogenic amine neurotransmitter metabolism in JOURNAL OF INHERITED METABOLIC DISEASE
  • Book

    TITLE

    JIMD Reports, Volume 24

    ISBN

    978-3-662-48226-1
    978-3-662-48227-8

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/8904_2015_450

    DOI

    http://dx.doi.org/10.1007/8904_2015_450

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1029050841

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/26006722


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