IllnessPyruvate Carboxylase Deficiency, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Pyruvate Carboxylase deficiency comprising altogether 10 curated genes [including 2 guideline-curated genes] according to the clinical signs

PP5552

Number of genes

10 Accredited laboratory test

Examined sequence length

5,2 kb (Core-/Core-canditate-Genes)
16,2 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
BTD	1572	609019	AR
PC	3537	608786	AR
CA5A	918	114761	AR
DLAT	1944	608770	AR
DLD	1530	238331	AR
PDHA1	1173	300502	XL
PDHB	1080	179060	AR
PDHX	1506	608769	AR
PDK3	1248	300906	XL
PDP1	1689	605993	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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

E74.4

Bioinformatics and clinical interpretation

No text defined