Paroxysmal movement disorders (PMDs) are rare neurological diseases typically
manifesting with intermittent attacks of abnormal involuntary movements. Two main …

The paroxysmal dyskinesias are a diverse group of genetic disorders that manifest as
episodic movements, with specific triggers, attack frequency, and duration. With recent …

Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical
response to low valine diet - ScienceDirect Skip to main contentSkip to article Elsevier logo …

Background and purpose HIBCH and ECHS1 genes encode two enzymes implicated in the
critical steps of valine catabolism, 3‐hydroxyisobutyryl‐coenzyme A (CoA) hydrolase …

Short-chain enoyl-CoA hydratase (ECHS1) is involved in amino acid and fatty acid
catabolism in mitochondria and its deficiency causes Leigh syndrome or exercise-induced …

Paroxysmal exercise-induced neurological symptoms (PENS) encompass a wide spectrum
of clinical phenomena commonly presenting during childhood and characteristically elicited …

Toxicity of accumulating substrates is a significant problem in several disorders of valine and
isoleucine degradation notably short‐chain enoyl‐CoA hydratase (ECHS1 or crotonase) …

Paroxysmal dyskinesias (PD) are rare movement disorders characterized by recurrent
attacks of dystonia, chorea, athetosis, or their combination, with large phenotypic and …

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH, NM_014362. 3) gene mutation can cause
HIBCH deficiency, leading to Leigh/Leigh-like disease. To date, few case series have …

3‐hydroxy isobutyl‐CoA hydrolase (HIBCH) deficiency is a recently described, rare inborn
error of valine metabolism associated with a Leigh syndrome‐like phenotype …