6.1

Neurotransmitter disorders

Defects in neurotransmitters cause a wide range of typical neurological presentations, such as early epileptic encefalopathy, progressive pyramidal movement disorders or severe spastic diplegia. Diagnosis is generally based on quantitative determination of metabolites in the cerebrospinal fluid, including aminoacids such as glutamate, glycine and GABA and metabolites of biogenic amines and pterins.

6.1.a

Monoamine neurotransmission

Tyrosine hydroxylase deficiency DNAJC12 deficiency (Non-tetrahydrobiopterin-deficient hyperphenylalaninemia) Aromatic L-amino acid…
6.1.b

Gamma-aminobutyric acid neurotransmitter disorders

GABA transaminase deficiency Succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) GABA…
6.1.c

Glutamate neurotransmitter disorders

Ionotropic glutamate receptor NMDA type subunit 1 dysregulation Autosomal dominant…
6.1.d

Glycine neurotransmitter disorders

Glycine transporter 1 deficiency Glycine transporter 2 deficiency (Hereditary hyperekplexia…
6.1.e

Disorders of choline neurotransmission

Choline transporter deficiency Choline acetyltransferase deficiency RIC3 acetylcholine receptor chaperone…
6.1.f

Disorders of the synaptic vesicle cycle

TBC1D24 deficiency KIF1A deficiency KIF5A deficiency KIF5C deficiency DYNC1H1 deficiency…

Subnetworks

Immagini SNW 344 x 258 px 1

NOMS

Disorders of neuromodulators and other small molecules

Hey, want to upgrade to pro plan?

18748

Upgrade Now

& get 25% off

Offer valid only for 24 hrs.

18749
Scroll to Top