Any one with autosomal recessive GTPCH DRD?

[Vettey]

Hi

I know the majority of those with DRD who have had positive genetic results have autosomal dominant (only need one mutation to get symptoms) GTPCH mutations. Just wondering if there is anybody who posts here who have been shown to have autosomal recessive GTPCH mutations?

Cheers,

Vettey

[babs]

Hello Vetty,

My daughter is suspected to have the autosomal recessive drd - specifically GTPCH def. a BH4 deficiency. Her dopamine and serotonin levels are low. If I can assist you in any way, answer your questions, please feel free to ask or email me. I believe you can get my email address from this site.

Babs
Rachel, 12 yrs GTPCH

[Vettey]

Hi Babs

I only just noticed your reply, sorry about that. Genetic tests should be back in the next month so may be in touch (depending on what they find). Hope hope hope that they find something this time. It's been a long process for me.

Did they find a mutation for your daughter?

take care,

Vettey