CONGENITAL GLUTAMINE DEFICIENCY; GLUTAMINE SYNTHASE DEFICIENCY

Question 1

What is  CONGENITAL GLUTAMINE DEFICIENCY; GLUTAMINE SYNTHASE DEFICIENCY?

Accepted Answer

very rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kongenitale Hirnfehlbildung durch Glutamin-Synthetase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610015

Question 4

Which enzymes are involved?

Accepted Answer

Glutamine synthetase

Disease	CONGENITAL GLUTAMINE DEFICIENCY; GLUTAMINE SYNTHASE DEFICIENCY
Synonym	GLUTAMINE SYNTHASE DEFICIENCY, CONGENITAL SYSTEMIC
OMIM	610015 OMIM = Online Mendelian Inheritance of Men
Orphanet	71278
Protein (UniProt)	Glutamine synthetase
ExPASy	6.3.1.2
Gene locus	1q25.3
ICD	E72.8
Summary	very rare autosomal recessive
Laboratory findings	Ammonia normal/inc (blood) Glutamine dec (urine) Glutamine dec (cerebrospinal fluid) Glutamine dec (serum)
Symptoms	apnea brain malformation CT, brain, abnormalities [-] developmental delay diarrhea dysmorphism early death encephalopathy epilepsy hyperammonemia hyperreflexia hypotonia limb abnormalities, limb deformities myelination, incomplete, hypomyelination onset, childhood onset, infancy onset, neonatal respiratory insufficiency seizures skin rash, eczematous or seborrhoic