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Summary
3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE DEFICIENCY (HMGCS2D)
HMCS2 MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY
605911
OMIM = Online Medalian Inheritance of Men
35701
1p12
  • avoidance of fasting
very rare (<1:1000000)
autosomal recessive
mutation in the HMGCS2 gene
Hereditary deficiency of mitochondrial HMG-CoA synthase .. is a poorly defined, treatable, probably underdiagnosed condition that can cause episodes of severe hypoketotic hypoglycemia [Bouchard et al. 2001]
symptoms
coma
diarrhea
feeding difficulties, poor feeding
hepatomegaly (large liver)
hypoglycemia
hypoketotic hypoglycemia
lethargy, drowsiness, malaise or sleep disorder
onset, adulthood
onset, childhood
onset, infancy
vomiting
laboratory finding
D-Glucose decreased (fasting)blood
Free fatty acids increasedserum
4-hydroxy-6-methyl-2-pyrone increasedurine
Triglycerides normal-increasedserum
Acetoacetic acid decreasedurine
3-Hydroxybutyric acid decreasedurine
Ketone bodies decreased (fasted)urine
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