HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT (DNAJC12)

Question 1

What is  HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT (DNAJC12)?

Accepted Answer

rare
autosomal recessive
mutation in the DNAJC12 gene
A preventable and treatable cause of hyperphenylalaninemia,
dystonia and intellectual disability [Anikster Y et al. 2017]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperphenylalaninämie; mild, nicht BH4-defizient

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 617384

Question 4

Which enzymes are involved?

Accepted Answer

DnaJ homolog subfamily C member 12

Disease	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT (DNAJC12)
Synonym	DNAJC12 DEFICIENCY
OMIM	617384 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	DnaJ homolog subfamily C member 12
Gene locus	19q21.3
ICD	E70.1
Summary	rare autosomal recessive mutation in the DNAJC12 gene A preventable and treatable cause of hyperphenylalaninemia, dystonia and intellectual disability [Anikster Y et al. 2017]
Laboratory findings	Phenylalanine inc (plasma) 5-Hydroxyindolacetic acid (5-HIAA) dec (cerebrospinal fluid) 5-Methyltetrahydrofolate (5-MTHF) normal/dec (cerebrospinal fluid) Homovanillic acid (HVA) dec (cerebrospinal fluid) Neopterin normal/dec (cerebrospinal fluid) Phenylalanine inc (urine)
Symptoms	abnormal movement behavior, autism or autistic-like behavior, self-mutilating or destructive dysarthria dystonia extrapyramidal signs hypotonia intellectual disability/intellectual developmental disorder nystagmus oculogyric crisis onset, childhood onset, infancy onset, neonatal Parkinsonism seizures speech difficulties