BH4 Deficiency and Neurotransmitter Disorders

Hyperphenylalaninemia due to BH4 Deficiency

Autozomálně recesivní

Caused by variants in PTS, QDPR, PCBD1 or GCH1, which raise phenylalanine and reduce dopamine and serotonin, leading to movement problems, seizures and developmental delay.

Hyperphenylalaninemia due to DNAJC12 Deficiency

Autozomálně recesivní

Caused by variants in DNAJC12, which can raise phenylalanine and cause neurotransmitter deficiency with movement and developmental problems.

Inborn Disorders of Neurotransmitter Metabolism and Transport

Includes aromatic L-amino acid decarboxylase (AADC) deficiency, tyrosine hydroxylase deficiency and vesicular monoamine transporter (SLC18A2) disease, which can cause movement disorders, low muscle tone and developmental delay.

Sepiapterin Reductase Deficiency

Autozomálně recesivní

Caused by variants in SPR, which reduce dopamine and serotonin and cause movement problems, fluctuating weakness and developmental delay, without raised phenylalanine.