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Summary
3-METHYLGLUTACONIC ACIDURIA (TYPE I)
3-METHYLGLUTACONICACIDURIA ACIDURIA, 3-METHYLGLUTACONIC TYPE I
250950
OMIM = Online Medalian Inheritance of Men
67046
9q22.31
  • low-protein diet
very rare
autosomal recessive
disorder of leucine degradation
symptoms
ataxia
athetosis
birthweight low (small for gestational age)
cerebellar atrophy or hypoplasia
chorea or athetosis
coma
dystonia
failure to thrive
hyperreflexia
hypoglycemia
leukoencephalopathy
mental retardation
metabolic acidosis
motor retardation
onset, adulthood
onset, childhood
onset, infancy
optic atrophy
Organic acids, urine
paraparesis/paraplegia
respiratory distress
seizures
speech development, delayed, abnormal
laboratory finding
3-Hydroxyisovaleric acid150.00250.000.0046.00mmol/mol creatinineurine
3-Methylglutaric acid5.0010.000.007.00mmol/mol creatinineurine
3-Methylglutaconic acid500.001000.000.009.00mmol/mol creatinineurine
3-Methylglutaconyl-CoA hydratase0.005.00 100.00% of normalfibroblasts
Glucose0.503.002.805.00mmol/lserum
Lactate1.006.000.901.80mmol/lblood
pH 7.357.45decreasedblood
Chloride 98.00106.00increasedserum
MRI, brain, abnormalities -
MRI, brain, white matter abnormalities -
Ammonia0.000.00 normal-increasedbloodall
Creatine kinase0.000.00 normal-increasedplasmaall
Literature
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