The clinical findings in all three CCDs result from the consequences of decreased levels of<unk>  in tissues where it is required. In affected individuals with all three disorders, there is an almost complete absence of<unk>  and phosphocreatine in the brain. The two tissues with the highest demands for<unk>  are the brain and skeletal muscles. Muscular findings usually include weakness and decreased endurance. Other clinical findings include seizures, intellectual disability and developmental delay. Most affected individuals appear normal at birth, with clinical findings becoming apparent during the first year of life, and progressing.
Cerebral creatine deficiency
Pantothenate kinase-associated neurodegeneration
Creatine transporter defect
N-Acetylglutamate synthase deficiency
Dopamine beta hydroxylase deficiency
Systemic primary carnitine deficiency
Mitochondrial encephalomyopathy
Mitochondrial toxicity