©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPyruvatdehydrogenase deficiency, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Pyruvat dehydrogenase deficiency comprising 24 and altogether 28 curated genes according to the clinical signs

ID
PP2231
Number of genes
24 Accredited laboratory test
Examined sequence length
27,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
BOLA3324AR
DLAT1944AR
DLD1530AR
ECHS1873AR
FBXL41866AR
GLRX5474AR
HIBCH1161AR
IBA571071AR
ISCA1415AR
ISCA2183AR
LIAS990AR
LIPT11122AR
LIPT2982AR
LONP12688AR
NFU1765AR
PDHA11173XLD
PDHB1080AR
PDHX1506AR
PDP11689AR
SLC19A21494AR
SLC19A31491AR
SLC25A19963AR
SLC25A261100AD
TPK1585AR

Informations about the disease

Clinical Comment

Rare neurometabolic disorder, wide range of clinical signs, metabolic + neurological components, varying severity; often fatal neonatal lactic acidosis or later-onset neurological disorders; 6 subtypes related to affected subunit of PDH complex, significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, PDH phosphatase deficiency

 

Synonyms
  • Alias: Ahornsirup-Krankheit, E3-defiziente (DLD)
  • Alias: Dihydro-Lipoamid-Dehydrogenase-Mangel (DLD)
  • Alias: Dihydrolipoamide dehydrogenase deficiency (DLD)
  • 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCH)
  • Anemia, sideroblastic, 3, pyridoxine-refractory (GLRX5)
  • CODAS (cerebral, ocular, dental, auricular, skeletal anomalies) syndrome (LONP1)
  • Charcot-Marie-Tooth disease, XLD, 6 (PDK3)
  • Combined D-2- + L-2-hydroxyglutaric aciduria (SLC25A1)
  • Combined oxidative phosphorylation deficiency 28 (SLC25A26)
  • Encephalopathy, neonatal severe, with lactic acidosis + brain abnormalities (LIPT2)
  • HARP syndrome (PANK2)
  • Hyperglycinemia, lactic acidosis + seizures (LIAS)
  • Lacticacidemia due to PDX1 deficiency (PDHX)
  • Lipoyltransferase 1 deficiency (LIPT1)
  • Microcephaly, Amish type (SLC24A19)
  • Mitochondrial DNA depletion syndrome, encephalomyopathic type (FBXL4)
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1)
  • Multiple mitochondrial dysfunctions syndrome 1 (NFU1)
  • Multiple mitochondrial dysfunctions syndrome 3 (IBA57)
  • Multiple mitochondrial dysfunctions syndrome 4 (ISCA2)
  • Multiple mitochondrial dysfunctions syndrome 5 (ISCA1)
  • Multiple mitochondrial dysfunctions syndrome 6 (PMPCB)
  • Multiple mitochondrial dysfunctions syndrome with hyperglycinemia (BOLA3)
  • Myasthenic syndrome, congenital, 23, presynaptic (SLC25A1)
  • Neurodegeneration with brain iron accumulation 1 (PANK2)
  • Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
  • Pyruvate dehydrogenase E1-beta deficiency (PDHB)
  • Pyruvate dehydrogenase E2 deficiency (DLAT)
  • Pyruvate dehydrogenase phosphatase deficiency (PDP1)
  • Spasticity, childhood-onset, with hyperglycinemia (GLRX5)
  • Thiamine metabolism dysfunction syndrome 4, progressive polyneuropathy type (SLC25A19)
  • Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (TPK1)
  • Thiamine metabolism dysfunction syndrome, biotin/thiamine-responsive encephalopathy type2 (SLC19A3)
  • Thiamine-responsive megaloblastic anemia syndrome (SLC19A2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E74.4

Bioinformatics and clinical interpretation

No text defined