GLUTAMINASE DEFICIENCY WITH NEONATAL EPILEPTIC ENCEPHALOPATHY (GLS)

Question 1

What is  GLUTAMINASE DEFICIENCY WITH NEONATAL EPILEPTIC ENCEPHALOPATHY (GLS)?

Accepted Answer

rare

autosomal recessive

mutation in the glutaminase gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618328

Question 3

Which enzymes are involved?

Accepted Answer

Glutaminase kidney isoform, mitochondrial

Disease	GLUTAMINASE DEFICIENCY WITH NEONATAL EPILEPTIC ENCEPHALOPATHY (GLS)
Synonym	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 71; EIEE71
OMIM	618328 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Glutaminase kidney isoform, mitochondrial
ExPASy	3.5.1.2
Gene locus	3q32.2
ICD
Summary	rare autosomal recessive mutation in the glutaminase gene
Laboratory findings	Glutamine inc (blood) Glutamic acid inc (urine) Glutamine dec (urine)
Symptoms	brain malformation cataract developmental delay early death encephalopathy epilepsy hypotonia onset, infancy onset, neonatal respiratory insufficiency seizures status epilepticus