BabyScreen+ newborn screening

Gene: PCBD1

Green List (high evidence)

Well established gene-disease association.

Presents in the neonatal period: characterized by mild transient hyperphenylalaninemia often detected by newborn screening. Patients also show increased excretion of 7-biopterin. Affected individuals are asymptomatic and show normal psychomotor development, although transient neurologic deficits in infancy have been reported. Patients may also develop hypomagnesemia and non-autoimmune diabetes mellitus during puberty.

Created: 5 Oct 2022, 5:39 a.m. | Last Modified: 9 Nov 2022, 6:37 a.m.

Panel Version: 0.862

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperphenylalaninemia, BH4-deficient, D , MIM#264070

Green List (high evidence)

is on the current VCGS newborn screening panel by virtue of phenylalanine being the primary first tier metabolite that is analysed.

Hyperphenylalaninaemia when present in the newborn is transient. There doesn’t appear to be cognitive impairment if untreated, but some individuals develop diabetes and/or mild hypomagnesaemia later in adolescence. There does not appear to be any evidence that any treatments in infancy would have an effect on these two late effects. See: PMID: 32456656

So, I think we can take this one off the list.

Created: 26 Sep 2022, 2:35 a.m. | Last Modified: 2 Nov 2022, 9:14 p.m.

Panel Version: 0.787

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal