Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes

Title

Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes

Creator

Swoboda KJ; Saul JP; McKenna CE; Speller NB; Hyland K

Identifier

Publisher

Annals Of Neurology

Date

2003

Subject

Child; Female; Humans; infant; Male; Treatment Outcome; Longitudinal Studies; Magnetic Resonance Imaging; Preschool; infant; Q3 Literature Search; Newborn; Age of Onset; Pedigree; Aromatic-L-Amino-Acid Decarboxylases/cerebrospinal fluid/deficiency/genetics; Autonomic Nervous System Diseases/genetics/physiopathology; Consanguinity; Hemodynamics/physiology; Movement Disorders/genetics/physiopathology; Nervous System Diseases/cerebrospinal fluid/genetics/physiopathology; Nitroprusside/diagnostic use; Vasodilator Agents/diagnostic use

Description

In this paper, we provide a brief update of diagnostic considerations and biochemical phenotype in L-amino acid decarboxylase deficiency. We review clinical features and outcome data in 11 affected patients, including 7 previously unreported cases. All had onset of the characteristic movement disorder by 6 months of age. The phenomenology of the movement disorder is identical to that previously reported, and includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired voluntary movement in all patients. Autonomic dysfunction is characterized by a significant impairment of sympathetic regulation of heart rate and blood pressure, as documented via detailed studies with spectral analysis techniques in two patients. Functional clinical outcomes as a group remain poor, in spite of a variety of attempted treatment interventions, with marked impairment in motor abilities as well as in speech and communication; however, outcome was quite variable from patient to patient and covered a broad spectrum of neurological disability. Much further work remains to identify and refine the best treatment options for patients with L-amino acid decarboxylase deficiency.
2003

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Type

Journal Article

Citation List Month

Backlog

Pages

S49-55

Volume

54 Suppl 6

Citation

Swoboda KJ; Saul JP; McKenna CE; Speller NB; Hyland K, “Aromatic L-amino acid decarboxylase deficiency: overview of clinical features and outcomes,” Pediatric Palliative Care Library, accessed November 30, 2021, https://pedpalascnetlibrary.omeka.net/items/show/13100.

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