GLUTARIC ACIDURIA I (LOW EXCRETER)

Q: What is GLUTARIC ACIDURIA I (LOW EXCRETER)?

rare (1:100.000) autosomal recessiv high- or low -excreter variants [Al-Dirbashy OY 2011] Presentation and progression of disease are variable ranging from asymptomatic carrier state to catastrophic encephalopathy [Fraidakis MJ 2015] further symptoms and laboratory findings refer to GLUTARIC ACIDURIA I

Question 1

What is  GLUTARIC ACIDURIA I (LOW EXCRETER)?

Accepted Answer

rare (1:100.000)
autosomal recessiv
high- or low-excreter variants [Al-Dirbashy OY 2011]
Presentation and progression of disease are variable ranging from asymptomatic carrier state to catastrophic encephalopathy [Fraidakis MJ 2015]
further symptoms and laboratory findings refer to GLUTARIC ACIDURIA I

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Glutarazidämie Typ 1; geringe oder niedrige Ausscheidung; Glutaryl-CoA-Dehydrogenase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 231670

Question 4

Which enzymes are involved?

Accepted Answer

Glutaryl-CoA dehydrogenase, mitochondrial

Disease	GLUTARIC ACIDURIA I (LOW EXCRETER)
Synonym	ACIDEMIA, GLUTARIC ACIDEMIA I
OMIM	231670 OMIM = Online Mendelian Inheritance of Men
Orphanet	25
Protein (UniProt)	Glutaryl-CoA dehydrogenase, mitochondrial
ExPASy	1.3.8.6
Gene locus	19p13.13
ICD	E72.3
Summary	rare (1:100.000) autosomal recessiv high- or low-excreter variants [Al-Dirbashy OY 2011] Presentation and progression of disease are variable ranging from asymptomatic carrier state to catastrophic encephalopathy [Fraidakis MJ 2015] further symptoms and laboratory findings refer to GLUTARIC ACIDURIA I
Laboratory findings	Glutarylcarnitine (C5DC) inc (urine) Glutarylcarnitine (C5DC) normal/inc (blood) 3-Hydroxyglutaric acid n/i (urine) Glutaric acid normal/inc (urine)
Symptoms	dystonia macrocephaly (large calvaria, >2 SD for age) hypokinesia onset, infancy onset, neonatal