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Summary
GLUTARIC ACIDURIA I
ACIDEMIA, GLUTARIC ACIDEMIA I
231670
OMIM = Online Medalian Inheritance of Men
25
19p13.13
  • amino acid mixture
  • anticholinergic drugs
  • anticonvulsants
  • botulinum toxin
  • glucose infusion (acute)
  • L-carnitine
  • low-protein diet
  • riboflavin
rare (1:100000)
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]
symptoms
basal ganglia, changes, lesions, calcifications (MRI, CT)
bleeding tendencies, hemorrhages
chorea or athetosis
dyskinesia
dystonia
encephalopathy
extrapyramidal signs
failure to thrive
fever
grimacing
hepatomegaly (large liver)
hygroma
hypotonia
irritability
ketosis, ketoacidosis
learning disability
macrocephaly (large calvaria, >2 SD for age)
metabolic acidosis
motor retardation
nephrotic syndrome
onset, adolescent
onset, childhood
onset, infancy
opisthotonus
Organic acids, urine
periventricular white matter changes
progressive neurologic defect
seizures
subdural haematoma
vomiting
laboratory finding
3-Hydroxyglutaric acid60.003000.000.003.00mmol/mol creatinineurine
E-Glutaconic acid2.00360.000.002.00mmol/mol creatinineurine
Glutaric acid10.0020.000.001.80-Ámol/lplasma
Glutaric acid500.0012000.000.703.60mmol/mol creatinineurine
L-Carnitine 40.0060.00decreasedplasma
Ketone bodies +-+++urine
3-Hydroxybutyric acid0.000.001.006.00increasedurineinfancy
CT, brain, abnormalities -
Glutaryl CoA dehydrogenase
MRI, brain, abnormalities -
Acylcarnitine0.000.00 increasedurineno data
Glutarylcarnitine (C5DC) increasedblood
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