GLUTAMINASE DEFICIENCY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND PROGRESSIVE ATAXIA

Question 1

What is  GLUTAMINASE DEFICIENCY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND PROGRESSIVE ATAXIA?

Accepted Answer

very rare

autosomal recessive

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618412

Question 3

Which enzymes are involved?

Accepted Answer

Glutaminase kidney isoform, mitochondrial

Disease	GLUTAMINASE DEFICIENCY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND PROGRESSIVE ATAXIA
Synonym	GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE; GDPAG
OMIM	618412 OMIM = Online Mendelian Inheritance of Men
Orphanet	555064
Protein (UniProt)	Glutaminase kidney isoform, mitochondrial
ExPASy	3.5.1.2
Gene locus	2q23.2
ICD
Summary	very rare autosomal recessive
Laboratory findings	Glutamine inc (plasma)
Symptoms	ataxia developmental delay dysarthria hypotonia onset, childhood onset, infancy speech development, delayed, abnormal tremor or twitching