leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
MONDO:0019046
leukodystrophy
is_a
COXPD12
exact
EARS2 combined oxidative phosphorylation deficiency
exact
LTBL
exact
combined oxidative phosphorylation defect type 12
exact
combined oxidative phosphorylation deficiency 12
related
combined oxidative phosphorylation deficiency caused by mutation in EARS2
exact
combined oxidative phosphorylation deficiency type 12
exact
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
exact
SPAPB1A10.11c