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Condition report · Metabolic

BH4 Deficiency and Neurotransmitter Disorders

Inherited disorders affecting tetrahydrobiopterin (BH4) or the production and transport of the brain chemicals dopamine and serotonin. Several can be detected through newborn phenylalanine screening and many respond to targeted treatment.

A condition report looks for rare variants known to cause the conditions it covers.

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The 4 conditions we analyse

Hyperphenylalaninemia due to BH4 Deficiency

Autosomal recessive

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.

What a diagnosis changes

Knowing allows treatment with BH4, neurotransmitter precursors (L-dopa, 5-hydroxytryptophan) and folinic acid where needed.

Genes analysed

Also known as

hyperphenylalaninemia; non-phenylketonuric hyperphenylalaninemia

Includes 4 related subtypes ↓
  • BH4-deficient hyperphenylalaninemia A
  • dihydropteridine reductase deficiency
  • GTP cyclohydrolase I deficiency with hyperphenylalaninemia
  • pterin-4 alpha-carbinolamine dehydratase 1 deficiency
MONDO:0016543Orphanet 238583MedGen 199656

Hyperphenylalaninemia due to DNAJC12 Deficiency

Autosomal recessive

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

What a diagnosis changes

Knowing allows treatment with BH4 and neurotransmitter precursors, which can improve outcomes.

Genes analysed

Also known as

HPANBH4

MONDO:0044304OMIM 617384Orphanet 508523MedGen 1391882

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.

What a diagnosis changes

Knowing allows targeted treatment such as L-dopa for tyrosine hydroxylase deficiency or gene therapy for AADC deficiency.

Genes analysed

Includes 9 related subtypes ↓
  • aromatic L-amino acid decarboxylase deficiency
  • brain dopamine-serotonin vesicular transport disease
  • Brunner syndrome
  • disorder of catecholamine synthesis
  • orthostatic hypotension 1
  • TH-deficient dopa-responsive dystonia
  • TH-deficient infantile parkinsonism and motor delay
  • TH-deficient progressive infantile encephalopathy
  • tyrosine hydroxylase deficiency
MONDO:0019219Orphanet 79169MedGen 1842206

Sepiapterin Reductase Deficiency

Autosomal recessive

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

What a diagnosis changes

Knowing allows treatment with L-dopa and 5-hydroxytryptophan, which can markedly improve symptoms.

Genes analysed

Also known as

autosomal recessive sepiapterin reductase-deficient DRD; DRD due to SRD; DYT-SPR; SPR deficiency; SRD

MONDO:0012994OMIM 612716Orphanet 70594MedGen 120642

Other metabolic conditions

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