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Summary
ISOVALERIC ACIDEMIA
ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY
243500
OMIM = Online Medalian Inheritance of Men
33
15q15.1
  • amino acid mixture
  • glycine
  • L-carnitine
  • low-protein diet
rare (>100 cases)
autosomal recessive
mutation in the isovaleryl CoA dehydrogenase gene
symptoms
coma
dehydration
developmental delay
encephalopathy
feeding difficulties, poor feeding
hyperammonemia
hypoglycemia
infantile spasms
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
mental retardation
metabolic acidosis
neutropenia (decreased neutrophils)
onset, infancy
onset, neonatal
Organic acids, urine
pain, abdominal
pancreatitis
respiratory distress
seizures
shortened gestation time
sweaty feet odor
tachypnea, hyperpnea, dyspnea, respiratory distress
thrombopenia, thrombocytopenia
vomiting
laboratory finding
Creatinine90.00329.0027.0088.00-Ámol/lserum
4-Hydroxyisovaleric acid20.00300.000.002.00mmol/mol creatinineurine
3-Hydroxyisovaleric acid1000.002000.000.0046.00mmol/mol creatinineurine
Ammonia60.002000.0025.0080.00-Ámol/lblood
D-Glucose0.503.002.805.00mmol/lserum
Isovalerylglycine2000.009000.000.200.90mmol/mol creatinineurine
pCO215.0045.0038.0042.00mm Hgblood
pH7.007.407.357.45no unitblood
3-Hydroxybutyric acid0.000.001.006.00increasedurineinfancy
Ketone bodies ++/+++urine
Ketone bodies increasedblood
Carnitine 23.0060.00decreasedplasma
Glycine0.000.00 increasedurineno data
Acylcarnitine0.000.00 increasedurineno data
Isovaleryl/2-Methylbutyrylcarnitine (C5) increasedblood
MRI, brain, abnormalities -
Isovalerylasparagine0.000.00 increasedurineno data
Isovalerylhistidine0.000.00 increasedurineno data
Isovaleryllysine0.000.00 increasedurineno data
Isovaleryltryptophan0.000.00 increasedurineno data
N-Acetyltryptophane0.000.00 increasedurineno data
Methylsuccinic acid0.000.00 increasedurineno data
Methylmalonic acid0.000.00 increasedurineno data
Methylfumaric acid0.000.00 increasedurineno data
2-Methyl-cis-aconitic acid0.000.00 increasedurineno data
Isovaleric acid0.000.00 increasedurineno data
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