Abstract Movement disorders are common symptoms in patients with inborn errors of metabolism (IEMs), and have a serious impact on their quality of life. Treatment of the movement disorder is…
Abstract As pharmacological management is dissatisfying in many metabolic movement disorders, neurosurgical procedures have been attempted to alleviate the most disabling symptoms, which are often severe dystonia, chorea, tremor, and…
Abstract Suspecting a genetic etiology for movement disorders of childhood often requires a high index of suspicion due to the heterogenous phenotypic expression, variable penetrance, and the influence of epigenetic…
Abstract Hereditary spastic paraplegias (HSPs) represent a large and heterogeneous group of inherited disorders, presenting with a phenotype that is predominated by lower limb spasticity and weakness, often accompanied by…
Abstract Purine metabolism encompasses the metabolic pathways involved in the synthesis, interconversion, salvage, and degradation of purine-based nucleosides and nucleotides. These metabolic pathways are involved in many essential cellular processes,…
Abstract Creatine is synthetized from two amino acids, arginine and glycine, in the kidney, liver, and pancreas. Two enzymes that are involved in the synthesis of creatine are L-arginine:glycine amidinotransferase…
Abstract Bile acids are synthesized via the classic pathway initiated by cholesterol 7-alpha-hydroxylase (CYP7A1) or via alternate pathways, one of which is initiated by sterol 27-hydroxylase (CYP27). Cerebrotendinous xanthomatosis (CTX)…
Abstract Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the brain. The primary precursor of GABA is glutamate, the major excitatory neurotransmitter in the brain. Glutamate is converted into…
Abstract Biotin–thiamin-responsive basal ganglia disease (BTBGD) is a reversible neurodegenerative disorder that is widely underdiagnosed. Chapter 25 Vitamin-Responsive Disorders: Biotin–Thiamine-Responsive Basal Ganglia Disease and Movement Disorders Albert L. Misko and…
Abstract Ataxia with vitamin E deficiency (AVED) was first described in 1981 by Burck et al. [1] as a progressive cerebellar ataxia in a 12-year-old boy with low vitamin E…
