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Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). Symptoms include motor decline, developmental regression, decreased intellectual capabilities, and…
The Sanfilippo Behavior Rating Scale (SBRS), a 68 item questionnaire, has been developed to assess the behavioral phenotype of children with Sanfilippo syndrome and its progression overtime. Fifteen scales rate orality, movement/activity,…
Lesch-Nyhan disease (LND) is a genetic disorder that has characteristic metabolic, neurologic, and behavioral features. There are multiple behavioral problems including impulsivity, aggressiveness, and severe recurrent self-injurious behavior (SIB).…
Melatonin was tested as a sleeping pill in five patients with neuronal ceroid lipofuscinoses. The single-blind, placebo-controlled study consisted of motor activity recordings, sleep logs, and administration of placebo or melatonin (2.5 or 5 mg).…
IMPORTANCE: Mitochondrial disease is being diagnosed with increasing frequency. Although children with mitochondrial disease often have severe, life-limiting illnesses, many survive into adulthood. There is, however, limited information about the…
Mucopolysaccharidosis IIIC (MPS IIIC, Sanfilippo C syndrome) is a lysosomal storage disorder caused by deficiency of the lysosomal enzyme acetyl-CoA:alpha-glucosaminide N-acetyltransferase (HGSNAT). We performed a clinical study on 29 Dutch MPS IIIC…
