Journal of Inherited Metabolic Disease

, Volume 32, Issue 3, pp 321–332

The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism

Symposium on Neurotransmitter Disorders

DOI: 10.1007/s10545-008-1007-6

Cite this article as:
Pons, R. J Inherit Metab Dis (2009) 32: 321. doi:10.1007/s10545-008-1007-6

Summary

Paediatric neurotransmitter diseases are a group of inherited disorders attributable to a disturbance of neurotransmitter metabolism. The monoamines, catecholamines and serotonin, also called biogenic amines, are neurotransmitters with multiple roles including psychomotor function, hormone secretion, cardiovascular, respiratory and gastrointestinal control, sleep mechanisms, body temperature and pain. Given the multiple functions of monoamines, disorders of their metabolism comprise a wide spectrum of manifestations, with motor dysfunction being the most prominent clinical feature. The severity of the clinical manifestations ranges from mild to severe. Patients with severe and intermediate phenotypes may present with infantile parkinsonism that differs in a number of aspects from the parkinsonism in nigrostriatal degeneration. Analysis of monoamine metabolites and pterins in spinal fluid assists in the diagnosis of these disorders. Treatment options include tetrahydrobiopterin supplementation, l-dopa, 5-hydroxytryptophan, and medications that potentiate monoamine transmission. Response to treatment is variable.

Abbreviations

5-HIAA

5-hydroxyindoleacetic acid

5-HTP

5-hydroxytryptophan

6PTP

6-pyruvoyltetrahydropterin

AADC

aromatic l-amino-acid decarboxylase

BH4

tetrahydrobiopterin

COMT

catechol O-methyltransferase

DA

dopamine

DBH

dopamine β-hydroxylase

DHPR

dihydropteridine reductase

GTPCH

GTP cyclohydrolase

5HT

serotonin

HVA

homovanillic acid

MAO

monoamine oxidase

MHPG

3-methoxy-4-hydroxyphenylglycol

NH2 TP

dihydroneopterin triphosphate

PCD

pterin 4α-carbinolamine dehydratase

PNMT

phenylethanolamine N-methyltransferase

PTPS

6-pyruvoyltetrahydropterin synthase

qBH2

quinonoid dihydrobiopterin

SR

sepiapterin reductase

Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  1. 1.First Department of PaediatricsAgia Sofia Hospital, Thivon & PapadiamantopoulouAthensGreece

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