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Summary
SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY (SCAD)
ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
201470
OMIM = Online Medalian Inheritance of Men
26792
12q24.31
  • avoidance of fasting
  • glucose infusion (acute)
  • riboflavin
rare (>50 cases), probably underestimated!
autosomal recessive
2 phenotypes:
- episodic hypoglycemia and ketosis
- developmental delay and hypotonia [Bok, AL et al. 2003]
symptoms
cholestasis
dysmorphism
epilepsy
exercise intolerance
failure to thrive
feeding difficulties, poor feeding
hyperammonemia
hypoglycemia
hypotonia
lactic acidosis
maternal acute fatty liver of pregnancy
metabolic acidosis
microcephaly
muscle weakness
onset, infant
onset, newborn
Organic acids, urine
peripheral neuropathy
rhabdomyolysis
seizures
vomiting
laboratory finding
Acylcarnitine/carnitine ratio0.7020.00 no uniturine
Ethylmalonic acid180.001150.00 mmol/mol creatinineurineno data
Glucose0.503.002.805.00mmol/lserum
Methylsuccinic acid20.0060.000.003.00mmol/mol creatinineurine
pH7.007.407.357.45no unitblood
Butyrylglycine1.005.000.002.00+Ôé¼g/mg creatinineurinenewborn
Hexanoylglycine0.005.000.200.80-Ág/mg creatinineurine
Acyl-CoA dehydrogenase0.000.251.041.20nmol ETF/min/mg proteinfibroblasts
Lactate1.805.000.901.80mmol/lblood
Adipic acid 0.0015.00increasedurine
Ammonia25.00400.0025.0080.00-Ámol/lblood
Butyryl/Isobutyrylcarnitine (C4) increasedplasma
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