Deutsch
IllnessPyruvate Carboxylase Deficiency, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Pyruvate Carboxylase deficiency comprising altogether 10 curated genes according to the clinical signs
ID
PP5552
Number of loci
| Loci type | Count |
|---|---|
| Gen | 10 |
Examined sequence length
5,2 kb (Core-/Core-canditate-Genes)
16,2 kb (Extended panel: incl. additional genes)
16,2 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci panel
Gen
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| BTD | 1572 | NM_001370658.1 | AR | |
| PC | 3537 | NM_000920.4 | AR | |
| CA5A | 918 | NM_001739.2 | AR | |
| DLAT | 1944 | NM_001931.5 | AR | |
| DLD | 1530 | NM_000108.5 | AR | |
| PDHA1 | 1173 | NM_000284.4 | XL | |
| PDHB | 1080 | NM_000925.4 | AR | |
| PDHX | 1506 | NM_003477.3 | AR | |
| PDK3 | 1248 | NM_001142386.3 | XL | |
| PDP1 | 1689 | NM_001161779.2 | AR |
Informations about the disease
Synonyms
- Alias: Ataxie mit Laktatazidose Typ 2
- Alias: Leigh-Syndrom durch Pyruvat-Carboxylase-Mangel
- Alias: Nekrotisierende Enzephalopathie durch Pyruvat-Carboxylase-Mangel
- Alias: Pyruvat-Carboxylase-Mangel
- Biotinidase deficiency (BTD)
- Charcot-Marie-Tooth disease, XLD, 6 (PDK3)
- Dihydrolipoamide dehydrogenase deficiency (DLD)
- Hyperammonemia due to carbonic anhydrase VA deficiency (CA5A)
- Lacticacidemia due to PDX1 deficiency (PDHX)
- Pyruvate carboxylase deficiency (PC)
- Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
- Pyruvate dehydrogenase E1-beta deficiency (PDHB)
- Pyruvate dehydrogenase E2 deficiency (DLAT)
- Pyruvate dehydrogenase phosphatase deficiency (PDP1)
Heredity, heredity patterns etc.
- AR
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined