Abstract Congenital disorders of glycosylation (CDGs) are a group of diseases characterized by an abnormal glycosylation of proteins or lipids. It is estimated that more than half of all proteins…
Abstract Copper is one of the six transition metals that have important biochemical roles in humans, particularly in catalysis and electron transport [1, 2]. Because it can exist in two…
Abstract Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1 DS) (OMIM 606777) is a disorder of brain energy metabolism caused by insufficient transport of glucose from the blood to the…
Abstract The syndromes of neurodegeneration with brain iron accumulation (NBIA) are a group of disorders defined by progressive hypo- and/or hyperkinetic movement disorders and excessive iron deposition in the brain…
Abstract The neuronal ceroid lipofuscinoses (NCLs) are rare, inherited, neurodegenerative, fatal lysosomal diseases of childhood caused by mutations in various genes. Although NCLs comprise more than 10 distinct diseases, they…
Abstract Niemann–Pick disease type C (NPC) is an atypical, ultra-rare, lysosomal storage disease [1]. In contrast to classic lysosomal storage diseases [2], the lysosomal storage of macromolecules is not caused…
Abstract Humans depend on dietary proteins as a source of amino acids; they are the metabolic basis of all functional and structural proteins in the body. Some amino acids –…
Abstract Myoclonus is a hyperkinetic movement disorder defined as a sudden, brief, involuntary jerk of a muscle or a muscle group. Myoclonus can be caused by muscle contraction (positive myoclonus)…
Abstract Parkinsonism is a syndrome diagnosed by the presence of cardinal motor features, generally defined as bradykinesia in combination with rigidity, resting tremor, flexed (stooped) posture, and freezing and/or impaired…
Abstract Ataxia means “lack of order,” and is defined as a cerebellar disorder characterized by disturbances of coordinated muscle activity. Clinically, cerebellar dysfunction manifests as nystagmus, dysarthria, intention tremor, dysdiadochokinesia,…
