The syndrome of TANGO2 deficiency is a very rare mitochondrial disorder.
Chromosome: 22q11.2
Gene: TANGO2 (transport and Golgi organization 2 homolog)
Inheritance: autosomal recessive
Clinical features of a deficiency in TANGO2 activity:
(1) developmental delay
(2) intellectual disability
(3) seizures
(4) encephalopathy
(5) recurrent metabolic crises
(6) dysarthria
(7) ataxia
(8) spasticity
(9) hyper or hypotonia
(10) variable hypothyroidism
(11) variable cardiomyopathy
Features of metabolic crises:
(1) recurrent rhabdomyolysis
(2) lactic acidosis
(3) cardiac tachyarrhythmias
(4) hypoglycemia
(5) hyperammonemia
Urinalysis may show:
(1) elevation of multiple acylcarnitine species
(2) elevation of urine dicarboxylic acids
(3) elevation of urine ketones
