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

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

Nenad Blau and

Manuel Schiff

Edited by

Darius Ebrahimi-Fakhari and

Phillip L. Pearl

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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

DOI: https://doi.org/10.1017/9781108556767 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2020

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References

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