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Summary
3-HYDROXYISOBUTYRIC ACIDURIA
3-HYDROXYISOBUTYRIC ACIDURIA
236795
OMIM = Online Medalian Inheritance of Men
939
unknown
  • L-carnitine
  • low-protein diet
rare (13 cases)
autosomal recessive
Mutation analysis in the ALDH6A1 gene can reveal a cause of 3-hydroxyisobutyric aciduria [Sass JO 2012]
symptoms
cerebral calcifications
clinodactyly
dehydration
developmental delay
dysmorphism
early death
failure to thrive
hypotonia
ketosis, ketoacidosis
lactic acidosis
metabolic acidosis
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
onset, neonatal
Organic acids, urine
respiratory insufficiency
vomiting
white matter changes, abnormalities
laboratory finding
3-Hydroxyisobutyric acid60.00600.000.0010.00mmol/mol creatinineurinechildhood
3-Hydroxypropionic acid20.002000.004.0030.00mmol/mol creatinineurine
2-Ethylhydracrylic acid 0.002.00increasedurine
3-Hydroxyisovaleric acid50.00200.0010.0066.00mmol/mol creatinineurine
Lactic acid300.00600.0040.00326.00mmol/mol creatinineurine
Lactic acid2.005.000.901.80mmol/lblood
L-Carnitine 20.0040.00decreasedplasma
MRI, brain, abnormalities -
Ketone bodies0.000.00 +/++urine
3-Hydroxyisovalerylcarnitine (C5-OH) increasedblood
2-Hydroxyisovaleric acid60.003000.00 mmol/mol creatinineurine
MRI, brain, white matter abnormalities -
Literature
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Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991
Tan Het al.Pyridoxine-dependent seizures and microcephalyPediatr Neurol313211-2132004
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Tulinius Met al.A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha geneEur J Pediatr164299-1032005
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