INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (CASGID)

Question 1

What is  INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (CASGID)?

Accepted Answer

very rare

autosomal dominant

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618339

Question 3

Which enzymes are involved?

Accepted Answer

Glutaminase kidney isoform, mitochondrial

Disease	INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (CASGID)
OMIM	618339 OMIM = Online Mendelian Inheritance of Men
Orphanet	555064
Protein (UniProt)	Glutaminase kidney isoform, mitochondrial
ExPASy	3.5.1.2
Gene locus	2q32.2
ICD
Summary	very rare autosomal dominant
Laboratory findings	Glutamine inc (urine)
Symptoms	behavior, self-mutilating or destructive cataract developmental delay hypotonia microcephaly (<2 SD for age) myelination, incomplete, hypomyelination skin defects