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Summary
3-METHYL-CROTONYL-GLYCINURIA
BETA-METHYLCROTONYLGLYCINURIA IMCC ACIDURIA, BETA-METHYL-CROTONYL-GLYCINURIA MCC1 DEFICIENCY
210200
OMIM = Online Medalian Inheritance of Men
6
3q27.1
  • biotin
  • glycine
  • high-carbohydrate diet
  • L-carnitine
  • leucine-restricted diet
  • low-protein diet
rare
autosomal recessive
exclude multiple carboxylase deficiency
- neonatal/early infantile form with seizures, hypotonia, feeding difficulties and vomiting
- late-onset form with seizures, hyperammonemia, hypoglycemia - juvenile form with vomiting and dehydration
symptoms
dermatitis
early death
failure to thrive
feeding difficulties, poor feeding
hair loss
hyperammonemia
hypoglycemia
hypotonia
ketosis
lethargy, drowsiness, malaise or sleep disorder
metabolic acidosis
motor retardation
no clinical signs or symptoms
onset, child
onset, infant
Organic acids, urine
seizures
skin, infections
strokelike episodes
tomcats urine odor
vomiting
laboratory finding
Ammonia100.00300.0025.0080.00-Ámol/lblood
3-Hydroxyisovaleric acid1700.0059000.000.0046.00mmol/mol creatinineurine
3-Methylcrotonylglycine400.001000.000.002.00mmol/mol creatinineurine
Glucose0.503.003.305.50mmol/lserum
pH7.007.407.357.45no unitblood
Carnitine 35.0055.00decreasedserum
3-Methylcrotonyl-CoA carboxylase 100.00decreased activityfibroblasts
3-Methylcrotonyl-CoA carboxylase 100.00decreased activityleucocytes
2-Oxoglutaric acid 50.00152.00normal/increasedurine
Transaminases 10.0030.00increasedserum
Ketone bodies +/++urine
3-Hydroxyisovalerylcarnitine (C5-OH) increasedblood
MRI, brain, white matter abnormalities -
Literature
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