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IllnessMaple syrup urine disease, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Maple syrup urine disease comprising 7 guideline-curated or altogether 30 curated genes according to the clinical signs

ID
AP3929
Number of genes
30 Accredited laboratory test
Examined sequence length
5,5 kb (Core-/Core-canditate-Genes)
43,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
BCKDHA1338NM_000709.4AR
BCKDHB1179NM_000056.5AR
DBT1449NM_001918.5AR
DLD1530NM_000108.5AR
ACAT11284NM_000019.4AR
AMT1212NM_000481.4AR
ARG1969NM_000045.4AR
ASL1395NM_000048.4AR
ASS11239NM_000050.4AR
CA5A918NM_001739.2AR
CPS14503NM_001122633.3AR
FAH1260NM_000137.4AR
GALT1140NM_000155.4AR
GCSH522NM_004483.5AR
GLDC3063NM_000170.3AR
GLUD11677NM_005271.5AD
IVD1182NM_001159508.3AR
MCEE531NM_032601.4AR
MMAA1257NM_172250.3AR
MMAB753NM_052845.4AR
MMADHC891NM_015702.3AR
MMUT2253NM_000255.4AR
NAGS1605NM_153006.3AR
OAT1320NM_000274.4AR
OTC1065NM_000531.6XLR
PCCA2187NM_000282.4AR
PCCB1620NM_000532.5AR
SLC25A132031NM_001160210.2AR
SLC25A15906NM_014252.4AR
SLC7A71536NM_001126105.3AR

Informations about the disease

Synonyms
  • Alias: Alpha-Ketosäuredecarboxylase-Mangel
  • Alias: BCKD deficiency
  • Alias: BCKD-Mangel
  • Alias: BCKDH-Mangel
  • Alias: Branched-chain 2-ketoacid dehydrogenase deficiency
  • Alias: Branched-chain alpha-keto acid dehydrogenase deficiency
  • Alias: Branched-chain ketoaciduria
  • Alias: Ketoacidemia
  • Alias: Verzweigtkettenketoazidurie
  • Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
  • Alpha-methylacetoacetic aciduria (ACAT1)
  • Argininemia (ARG1)
  • Argininosuccinic aciduria (ASL)
  • Carbamoylphosphate synthetase I deficiency (CPS1)
  • Citrullinemia (ASS1)
  • Citrullinemia, adult-onset type II (SLC25A13)
  • Citrullinemia, type II, neonatal-onset (SLC25A13)
  • Dihydrolipoamide dehydrogenase deficiency (DLD)
  • Galactosemia (GALT)
  • Glycine encephalopathy (AMT, GCSH, GLDC)
  • Gyrate atrophy of choroid + retina with/-out ornithinemia (OAT)
  • Homocystinuria, cblD type, variant 1 (MMADHC)
  • Hyperammonemia due to carbonic anhydrase VA deficiency (CA5A)
  • Hyperinsulinism-hyperammonemia syndrome (GLUD1)
  • Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (SLC25A15)
  • Isovaleric acidemia (IVD)
  • Lysinuric protein intolerance (SLC7A7)
  • Maple syrup urine disease, type II (DBT)
  • Maple syrup urine disease, type Ia (BCKDHA)
  • Maple syrup urine disease, type Ib (BCKDHB)
  • Methylmalonic aciduria + homocystinuria, cblD type (MMADHC)
  • Methylmalonic aciduria, cblD type, variant 2 (MMADHC)
  • Methylmalonic aciduria, mut(0) type (MMUT)
  • Methylmalonic aciduria, vitamin B12-responsive, cblA type (MMAA)
  • Methylmalonic aciduria, vitamin B12-responsive, cblB type (MMAB)
  • Methylmalonyl-CoA epimerase deficiency (MCEE)
  • N-acetylglutamate synthase deficiency (NAGS)
  • Ornithine transcarbamylase deficiency (OTC)
  • Propionicacidemia (PCCA, PCCB)
  • Tyrosinemia, type I (FAH)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined