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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 (1:100.000)
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]
symptoms
bleeding tendencies, hemorrhages
chorea or athetosis
dyskinesia
dystonia
encephalopathy
extrapyramidal signs
failure to thrive
fever
grimacing
hepatomegaly (large liver)
hygroma
hypotonia
irritability
ketosis
learning disability
macrocephaly (large calvaria, >2 SD for age)
metabolic acidosis
motor retardation
nephrotic syndrome, congenital
onset, adolescent
onset, child
onset, infant
opisthotonus
Organic acids, urine
progressive neurologic defect
seizures
subdural haematoma
vomiting
laboratory finding
3-Hydroxyglutaric acid60.003000.000.003.00mmol/mol creatinineurine
Glutaconic acid2.00360.000.002.00mmol/mol creatinineurinechild
Glutaric acid10.0020.000.001.80-Ámol/lplasma
Glutaric acid500.0012000.000.002.00mmol/mol creatinineurineadult
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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