Presentation, diagnosis, and treatment of the disorders of monoamine neurotransmitter metabolism.

Abstract:

:For many years, all of the described cases of monoamine neurotransmitter deficiency were associated with hyperphenylalaninemia that was generally detected at neonatal screening. It is now clear that inherited deficiency of monoamines often occurs in the absence of hyperphenylalaninemia and that the normal battery of screening tests used to investigate individuals with suspected metabolic disease will not detect these cases. Diagnosis in this situation must rely heavily on clinical suspicion. This article, therefore, describes the presentation and clinical symptoms that result from defective monoamine neurotransmission; outlines therapeutic approaches; and explains how cerebrospinal fluid profiles of monoamine metabolites, their precursors, and the cofactor required for monoamine synthesis can be used to pinpoint the exact site of the metabolic lesion.

journal_name

Semin Perinatol

journal_title

Seminars in perinatology

authors

Hyland K

doi

10.1016/s0146-0005(99)80051-2

keywords:

subject

Has Abstract

pub_date

1999-04-01 00:00:00

pages

194-203

issue

2

eissn

0146-0005

issn

1558-075X

pii

S0146-0005(99)80051-2

journal_volume

23

pub_type

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