<unk>  can be described as a metabolic disorder, a neurometabolic disease, a cerebral palsy or a basal ganglia disorder (it may also be misdiagnosed as shaken baby syndrome). Depending on the paradigm adopted,<unk>  will mostly be managed with precursor restriction or with neurorehabilitation. So-called "orphan diseases", such as<unk> , can be adopted into wider groups of diseases (such as carnitine deficiency diseases, cerebral palsies of diverse origins, basal ganglia disorders, and others); Morton at al. (2003b) emphasize that acute striatal necrosis is a distinctive pathologic feature of at least 20 other disorders of very different etiologies, including, HIV encephalopathy–AIDS dementia complex, pneumococcal meningitis, hypoadrenal crisis, methylmalonic acidemia, propionic acidemia, middle cerebral artery occlusion, hypertensive vasculopathy, acute Mycoplasma pneumoniae infection, 3-nitropropionic acid intoxication, late-onset familial dystonia, cerebrovascular abrupt and severe neonatal asphyxia ("selective neuronal necrosis"). In a cohort of 279 patients who had been reported to have<unk> ,<unk> 85 were symptomatic (two-thirds); being symptomatic was seen as an indication of low treatment efficacy. Screening of those known to be at high risk, neonatal population screening and a diagnosis of macrocephaly are the ways to identify bearers of the GCDH mutation who are not frankly symptomatic. Macrocephaly remains the main sign of<unk>  for those who have no relatives with<unk>  and have not been included in a population screening program.<unk>  is considered a treatable disease. Two-thirds of the patients who have<unk>  encephalopathy will receive little benefit from the treatment for<unk>  but can benefit from treatments given to victims of middle cerebral artery occlusion, AIDS dementia and other basal ganglia disorders: brain implants, stem cell neurorestoration, growth factors, monoaminergic agents, and many other neurorehabilitation strategies.
Glutaric aciduria type 1
Aspartylglucosaminuria
Hawkinsinuria
Alkaptonuria
Homocystinuria
2-Hydroxyglutaric aciduria
Essential fructosuria
Phenylketonuria