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Summary
MULTIPLE CARBOXYLASE DEFICIENCY, NEONATAL OR EARLY ONSET FORM
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
253270
OMIM = Online Medalian Inheritance of Men
79242
21q22.13
  • biotin
rare (<1:200.000)
autosomal recessive
symptoms
alopecia
ataxia
coma
dermatitis
developmental delay
early death
encephalopathy
hyperammonemia
hypotonia
infections (severe or recurrent)
ketosis, ketoacidosis
lethargy, drowsiness, malaise or sleep disorder
mental retardation
metabolic acidosis
motor retardation
onset, childhood
onset, neonatal
seizures
skin rash, eczematous or seborrhoic
tomcats urine odor
valvular heart disease
vomiting
laboratory finding
3-Hydroxyisovaleric acid250.003600.000.0046.00mmol/mol creatinineurineNeonatal, Infancy
3-Methylcrotonylglycine30.00260.000.002.00mmol/mol creatinineurineNeonatal, Infancy
Methylcitric acid15.00200.002.0012.00mmol/mol creatinineurineNeonatal, Infancy
3-Hydroxypropionic acid45.001300.003.0010.00mmol/mol creatinineurineNeonatal, Infancy
Ammonia150.00350.0025.0080.00-Ámol/lblood
L-Lactic acid100.0075000.003.5029.30mmol/mol creatinineurineNeonatal, Infancy
pH7.007.407.357.45no unitblood
Ketone bodies0.000.00 +/++urineno data
3-Hydroxyisovalerylcarnitine (C5-OH)0.000.00 increasedurineNeonatal, Infancy
Tiglylglycine0.000.00 increasedurineno data
3-Hydroxyvaleric acid0.000.00 increasedurineNeonatal, Infancy
3-Hydroxypropionic acid0.000.00 increasedurineNeonatal, Infancy
L-Lactic acid increasedplasmaNeonatal, Infancy
3-Hydroxyisovalerylcarnitine (C5-OH) increasedplasmaNeonatal, Infancy
MRI, brain, abnormalities - ---
Literature
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Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Holt IJet al.A new mitochondrial disease associated with mitochondrial DNA heteroplasmyAm J Hum Genet460428-4331990
Longo NMitochondrial encephalopathyNeurol Clin214817-8312003
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Collet M,et al.High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhoodEur J Hum Genet2481112-11162016
Tee MKet al.T->A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenial lipoid adrenal hyperplasiaHum Mol Genet402299-23051995
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Lagoutte-Renosi J,et al.Lethal Neonatal Progression of Fetal Cardiomegaly Associated to ACAD9 DeficiencyJIMD Rep002015
Shapira SKet al.Ketoacidotic crisis as a presentation of mild (benign) methylmalonic acidemiaJ Pediatr119080-841991