NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES

Question 1

What is  NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES?

Accepted Answer

very rare

autosomal recessive

mutation in the WARS2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 617710

Question 3

Which enzymes are involved?

Accepted Answer

Tryptophan--tRNA ligase, mitochondrial

Disease	NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES
Synonym	NEMMLAS
OMIM	617710 OMIM = Online Mendelian Inheritance of Men
Orphanet	88616
Protein (UniProt)	Tryptophan--tRNA ligase, mitochondrial
ExPASy	6.1.1.2
Gene locus	1p12
ICD
Summary	very rare autosomal recessive mutation in the WARS2 gene
Laboratory findings	D-Glucose normal/dec (plasma) L-Lactic acid inc (plasma)
Symptoms	abnormal movement ataxia behavior, aggressive cardiomyopathy cerebral atrophy defect of walking, running, rising or climbing dystonia epilepsy feeding difficulties, poor feeding hyperreflexia hypoglycemia hypotonia intellectual disability/intellectual developmental disorder intrauterine growth retardation lactic acidosis leukoencephalopathy microcephaly (<2 SD for age) MRI, brain, abnormalities [-] muscle atrophy muscle weakness myelination, incomplete, hypomyelination nystagmus onset, infancy optic atrophy periventricular white matter changes psychomotor retardation retinitis pigmentosa seizures speech development, delayed, abnormal strabismus swallowing difficulties