GLUTARIC ACIDURIA I

Q: What is GLUTARIC ACIDURIA I?

rare (1:110000) 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] subdural hemorrhage may be a life-threatening complication after minor head trauma [Zielonka M et al. 2015]

Question 1

What is  GLUTARIC ACIDURIA I?

Accepted Answer

rare (1:110000)
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]

subdural hemorrhage may be a life-threatening complication after minor head trauma [Zielonka M et al. 2015]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Glutarazidurie Typ 1; Glutarazidämie Typ 1; 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
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 (1:110000) 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] subdural hemorrhage may be a life-threatening complication after minor head trauma [Zielonka M et al. 2015]
Laboratory findings	Glutarylcarnitine (C5DC) inc (urine) Glutarylcarnitine (C5DC) inc (blood) 3-Hydroxyglutaric acid inc (urine) E-Glutaconic acid normal/inc (urine) Glutaric acid inc (urine) 3-Hydroxybutyric acid inc (urine) Acylcarnitine (C2) inc (urine) Glutaric acid inc (plasma) Glutaryl CoA dehydrogenase () Ketone bodies (urine) inc (urine) L-Carnitine dec (plasma) Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms	periventricular white matter changes abnormal movement ataxia chorea or athetosis dysarthria dyskinesia dystonia encephalopathy feeding difficulties, poor feeding headache (severe, recurrent or occipital, migraine) hypertonia, spasticity hypotonia macrocephaly (large calvaria, >2 SD for age) myelination, incomplete, hypomyelination Parkinsonism pneumonia swallowing difficulties vertigo, dizziness vomiting basal ganglia, changes, lesions, calcifications (MRI, CT) bleeding tendencies, hemorrhages CT, brain, abnormalities [-] Encephalopathic crisis, acute extrapyramidal signs failure to thrive fever grimacing hepatomegaly (large liver) intracranial hemorrhage, hematoma irritability ketosis, ketoacidosis learning disability metabolic acidosis motor retardation MRI, brain, abnormalities [-] nephrotic syndrome onset, adolescent onset, childhood onset, infancy onset, neonatal opisthotonus Organic acids, urine progressive neurologic defect seizures subdural effusions subdural haematoma