<unk>  is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary sustained muscle contractions known as dystonia. Symptoms are usually present within the first year of age, but diagnosis is delayed due to physicians lack of awareness and the specialized diagnostic procedures. Individuals with this disorder also have delayed motor skills development including sitting, crawling, and need assistance when walking. Additional symptoms of this disorder include intellectual disability, excessive sleeping, mood swings, and an abnormally small head size. SR<unk>  is a very rare condition. The first case was diagnosed in 2001, and since then there have been approximately 30 reported cases. At this time, the condition seems to be treatable, but due to a lack of overall awareness and a series of atypical procedures used to diagnose this condition pose a dilemma.
Sepiapterin reductase deficiency
Enolase deficiency
Holocarboxylase synthetase deficiency
Ornithine translocase deficiency
Carbamoyl phosphate synthetase I deficiency
Malonyl-CoA decarboxylase deficiency
Glutathione synthetase deficiency
Mevalonate kinase deficiency