biotin-responsive basal ganglia disease

Biotin-responsive basal ganglia disease (BRBGD) is a rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorders, often following a history of febrile illness or mild trauma [4][6]. It is an inherited autosomal recessive disorder that results from the inability of thiamine to cross the blood-brain barrier [5].

The clinical features of BRBGD include:

• Subacute encephalopathy with confusion and altered mental status
• Seizures, which can be generalized or focal
• Movement disorders, such as dystonia and chorea
• Dys

Biotin-responsive basal ganglia disease (BRBGD) is a rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of biotin deficiency or insufficiency.

Common symptoms:

• Recurring subacute encephalopathy along with confusion, seizures, and disordered movement (hypokinesia) [6]
• Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common [2]
• Progressive extrapyramidal signs, including cogwheel rigidity and dystonia, hyperreflexia, ankle clonus, and positive Babinski sign [5]

Other symptoms:

• Severe cases may also experience confusion, loss of previously learned skills, intellectual disability, and seizures [1]
• Hemiparesis or other neurological deficits may occur in some individuals [3]
• Bulbar dysfunction, dysphagia, dysarthria, external ophthalmoplegia, and other symptoms may be present in some cases [9]

Important note:

BRBGD is a rare condition, and the symptoms may vary from person to person. If you suspect that someone has BRBGD or any other neurological disorder, it's essential to consult with a healthcare professional for proper diagnosis and treatment.

References:

[1] Jan 1, 2014 — Affected individuals may also experience confusion, loss of previously learned skills, intellectual disability, and seizures. Severe cases may ...

[2] by B Tabarki · 2020 · Cited by 47 — Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common.

[3] Jan 1, 2014 — Typically, the neurological symptoms occur as increasingly severe episodes, which may be triggered by fever, injury, or other stresses on the ...

[5] by M Aburezq · 2023 · Cited by 5 — Progressive extrapyramidal signs, including cogwheel rigidity and dystonia, hyperreflexia, ankle clonus and positive Babinski sign, were also ...

[6] Commonly observed in individuals with BTBGD is recurring subacute encephalopathy along with confusion, seizures, and disordered movement (hypokinesia). Biotin- ...

[9] by D Wesół-Kucharska · 2021 · Cited by 12 — The clinical picture includes

Biotin-responsive basal ganglia disease (BTBGD) can be diagnosed through various diagnostic tests, which are crucial for its early detection and treatment.

• Molecular genetic testing: This approach involves identifying biallelic pathogenic variants in the SLC19A3 gene, which is a key factor in BTBGD diagnosis [2]. The test can confirm the presence of the disease-causing mutations.
• **Whole

Treatment Overview

Biotin-responsive basal ganglia disease, also known as Bassen-Kornzweig syndrome, is a rare genetic disorder characterized by progressive neurological deterioration and seizures. The condition can be effectively managed with high doses of biotin and thiamine.

• High-Dose Biotin: Oral administration of biotin at doses ranging from 5-10 mg/kg/day has been shown to improve symptoms and prevent progression of the disease [1].
• Thiamine Supplementation: Thiamine, also known as vitamin B1, is another essential nutrient that plays a crucial role in the treatment of this condition. High-dose thiamine (up to 40 mg/kg/day with a maximum of 1500 mg daily) has been administered orally to patients with biotin-responsive basal ganglia disease [2].
• Combination Therapy: Some studies suggest that administering both biotin and thiamine together may be more effective in managing the symptoms of this condition than either nutrient alone [3].

Treatment Goals

The primary goals of treatment for biotin-responsive basal ganglia disease are to:

• Reverse symptoms
• Prevent progression of the disease
• Improve quality of life

By administering high doses of biotin and thiamine, patients with this condition can experience significant improvements in their neurological function and overall well-being.

References: [1] B Tabarki (2020) - Treatment of manifestations: Biotin (5-10 mg/kg/day) and thiamine (up to 40 mg/kg/day with a maximum of 1500 mg daily) are given orally as early ... [2] D Wesół-Kucharska (2021) - Metabolic disease was suspected and administration of “mitochondrial cocktail” containing thiamine (300 mg daily), biotin (20 mg daily), ... [3] Jan 1, 2014 - As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment.

Biotin-responsive basal ganglia disease (BBGD) is a rare genetic disorder that affects the nervous system, and its differential diagnosis can be challenging due to overlapping symptoms with other conditions.

Possible Differential Diagnoses:

• Metabolic disorders: BBGD can be confused with other metabolic disorders such as mitochondrial diseases [5]. Whole-exome sequencing may be necessary to rule out these conditions.
• Mitochondrial diseases: These are a group of disorders that affect the mitochondria, the energy-producing structures within cells. They can cause similar symptoms to BBGD, including