Visit Metagene.de!
Summary
ISOVALERIC ACIDEMIA
ACIDEMIA, ISOVALERIC IVA ISOVALERYL CoA CARBOXYLASE 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
symptoms
coma
encephalopathy
hyperammonemia
hypoglycemia
ketosis
mental retardation
metabolic acidosis
neutropenia (decreased neutrophils)
onset, infant
onset, newborn
Organic acids, urine
pancreatitis
respiratory distress
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
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
Literature
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Kalteis Tet al.Arthroscopic and histologic findings in Morquios syndromeArthroscopy212233-2372005
Sacca SCCampagna P, Ciurlo GCongenital glaucoma associated with an arginase deficit: a case reportEur J Ophthalmol 1996 Oct-Dec6(4):421-660421-4261996
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Harmatz Pet al.Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II studyActa Paediatr Suppl0061-682005
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Brooks DAet al.An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrumMol Genet Metab853236-2382005
Stoeckler Set al.Creatine deficiency in the brain: a new, treatable inborn error of metabolismPediatr Res360409-4131994
Hackenberg AHuppertz HIVitamin-B12-Mangel durch vegane Ern+ñhrung der Mutterpaediatrie hautnah40212-2152004
Pascual JMet al.GLUT1 deficiency and other glucose transporter diseasesEur J Endocrinol1505627-6332004
Le Caignecet al.Sonographic findings in Beckwith-Wiedemann syndrome related to H19 hypermethylationPrenat Diagn243165-1682004
Simonaro CMet al.Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal modelsPediatr Res570701-7072005
Csoka ABFrost GI, Stern RThe six hyaluronidase-like genes in the human and mouse genomesMatrix Biol208499-5082001
Triggs-Raine Bet al.Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IXProc Natl Acad Sci U S A96116296-63001999
Orlowski JPWhatever happened to Reyes syndrome? Did it ever really exist?Crit Care Med 1999 Aug27(8):1582-72701582-15871999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
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
Baujat Get al.Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndromeAm J Hum Genet744715-7202004
Poggi-Travert Fet al.Clinical approach to inherited peroxisomal disordersJ Inher Met Dis Suppl1801-181995
Kobayashi Ket al.The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier proteinNat Genet220159-1631999