<unk>  is suggested by clinical findings and confirmed with laboratory and genetic testing. Clinical findings Dystonia, nystagmus, and problems with the autonomic nervous system suggest damage to the basal ganglia and brain stem potentially caused by<unk> . Other symptoms are also indicative of brain damage, such as hypertrichosis and neurologically caused deafness. Laboratory findings of lactic acidosis or acidemia and hyperalaninemia (elevated levels of alanine in the blood) can also suggest<unk> . Assessing the level of organic acids in urine can also indicate a dysfunction in the metabolic pathway. Differential diagnosis Other diseases can have a similar clinical presentation to<unk> ; excluding other causes of similar clinical symptoms is often a first step to diagnosing<unk> . Conditions that can appear similar to<unk>  disease include perinatal asphyxia, kernicterus, carbon monoxide poisoning, methanol toxicity, thiamine deficiency, Wilson's disease, biotin-responsive basal ganglia disease, and some forms of encephalitis. Perinatal asphyxia can cause bilateral ganglial lesions and damage to the thalamus, which are similar to the signs seen with<unk> . When hyperbilirubinemia is not treated with phototherapy, the bilirubin can accumulate in the basal ganglia and cause lesions similar to those seen in<unk> . This is not common since the advent of phototherapy.
Leigh syndrome
Tay–Sachs disease
Maroteaux–Lamy syndrome
Coffin–Siris syndrome
Ohtahara syndrome
Nathalie syndrome
Laurence–Moon syndrome
Kosaki overgrowth syndrome