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Chapter 22 - Neurotransmitter Disorders: DNAJC12-Deficient Hyperphenylalaninemia – An Emerging Neurotransmitter Disorder

from Section II - A Metabolism-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

By
Nenad Blau  and
Manuel Schiff
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
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Summary

DNAJC12 deficiency is a recently described form of hyperphenylalaninemia (HPA) [1]. HPA represents a metabolic condition caused by a deficiency in either phenylalanine (Phe) hydroxylase (PAH) or in one of the enzymes involved in the biosynthesis or regeneration of tetrahydrobiopterin (BH4) [2]. BH4 is the natural cofactor of PAH, tyrosine hydroxylase (TH), tryptophan hydroxylases (TPHs), and alkylglycerol monooxygenase, as well as all isoforms of nitric oxide synthase [3].

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 290 - 295
Publisher: Cambridge University Press
Print publication year: 2020

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References

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