LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL)

Question 1

What is  LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL)?

Accepted Answer

rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Leukoenzephalopathie mit Hirnstamm- und Rückenmarkbeteiligung - Laktaterhöhung

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 611105

Question 4

Which enzymes are involved?

Accepted Answer

Aspartate--tRNA ligase, mitochondrial

Disease	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION (LBSL)
Synonym	MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY
OMIM	611105 OMIM = Online Mendelian Inheritance of Men
Orphanet	137898
Protein (UniProt)	Aspartate--tRNA ligase, mitochondrial
Gene locus	1q25.1
ICD	E75.2
Summary	rare autosomal recessive
Laboratory findings	L-Lactic acid dec (plasma)
Symptoms	ataxia cognitive impairment contractures, joints dysarthria hyperreflexia hypertonia, spasticity hyporeflexia lactic acidosis leukoencephalopathy motor retardation MRS, brain, abnormalities muscle atrophy muscle weakness nystagmus onset, adolescent onset, childhood onset, fetus onset, infancy onset, neonatal onset, variable age peripheral neuropathy psychomotor retardation