Threoninemia. Hyperthreoninemia.
Incidence
Extremely rare. Autosomal recessive. One case reported.
Clinical Characteristics
Reddy (1977) informed Dr. McKussick of a case of threoninemia. The patient, an 8-month-old male offspring of a consanguineous marriage, had growth retardation and convulsions. The serum level of threonine was about 10 times normal and urinary excretion was increased. Oral loading with threonine increased the concentration in serum and urine. Threonine levels were normal in both parents
Precipitants
None
Provocation Tests
Oral loading with threonine increased the concentration in serum and urine.
Diagnostic Procedures
Aminoacids in plasma and urine quantitative.