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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
dysmorphism
early death
failure to thrive
hypotonia
ketosis
lactic acidosis
metabolic acidosis
microcephaly
Organic acids, urine
respiratory insufficiency
vomiting
laboratory finding
3-Hydroxyisobutyric acid60.00390.002.0033.00mmol/mol creatinineurine
3-Hydroxypropionic acid 3.0010.00increasedurine
2-Ethylhydracrilic acid 0.0020.00increasedurine
3-Hydroxyisovaleric acid 0.0046.00increasedurine
Lactate 40.00326.00increasedurine
Lactate 0.901.80increasedblood
Carnitine 20.0040.00decreasedplasma
MRI, brain, abnormalities -
Ketone bodies0.000.00 +/++urineno data
3-Hydroxyisovalerylcarnitine (C5-OH) increasedblood
Literature
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
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
Worton RGBrooke MHThe X-linked muscular dystrophiesThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.31404195-42261995
Kahler SGet al.Pancreatitis in patients with organic acidemiasJ Pediatr1240239-2431994
Pearl PLet al.Clinical spectrum of succinic semialdehyde dehydrogenase deficiencyNeurology6091413-14172003
Cooper Aet al.Alpha- and beta-mannosidosesJ Inherit Metab Dis134538-5481990
Kahler SGet al.Pancreatitis in patients with organic acidemiasJ Pediatr1240239-2431994
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Rheault MNet al.Mouse model of x-linked alport syndromeJ Am Soc Nephrol1561466-14742004
Sherman PMMitchell DJ, Cutz ENeonatal enteropathies: defining the causes of protracted diarrhea of infancyJ Pediatr Gastroenterol Nutr38116-262004