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Summary
HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT
DNAJC12 DEFICIENCY
617384
OMIM = Online Medalian Inheritance of Men
19q21.3
rare
A preventable and treatable cause of hyperphenylalaninemia,
dystonia and intellectual disability [Anikster Y et al. 2017]
symptoms
behavior, autism or autistic-like
behavior, self-mutilating or destructive
dystonia
hypotonia
nystagmus
oculogyric crisis
Parkinsonism
seizures
speech difficulties
laboratory finding
L-Phenylalanine increasedblood
5-Hydroxyindolacetic acid decreasedcerebrospinal fluid
Homovanillic acid decreasedcerebrospinal fluid
Neopterin normal-decreasedcerebrospinal fluid
5-Methyltetrahydrofolate normal-decreasedcerebrospinal fluid
Literature
Arora Net al.Cardiomyopathy in tyrosinaemia type I is common but usually benignJ Inherit Metab Dis29054-572006