Treatable Intellectual Disability

Biotin Responsive Basal Ganglia Disease

BIOCHEMICAL DEFICIENCY

Stacks Image 50

DIAGNOSIS

Gene
SLC19A3 (AR)

Diagnostic Test
SLC19A3 Gene Test

Stacks Image 51

SIGNS & SYMPTOMS

Neurological
Encephalopathic crisis, dystonia

Non-Neurological
- - -

Stacks Image 52

THERAPY

Treatment
Biotin Supplement

Level of Evidence
4

Clinical Practice
Standard of Care

Treatment Effect
Improves psychomotor development/IQ &
neurological manifestations



Stacks Image 53

Biotin Responsive Basal Ganglia Disease

Unfortunately there's no figure of the pathway available at this moment

Biotin Responsive Basal Ganglia Disease

is a recessive disorder with childhood onset that presents as a subacute encephalopathy, with confusion, dysarthria, and dysphagia, and that progresses to severe rigidity, dystonia, quadriparesis and death if not treated. (Source: Genetics Home Reference)

No information available from this source.

This disease is not (yet) listed on their website.