IllnessGlutaraciduria type I; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Glutaraciduria type I comprising 1 guideline-curated and altogether 13 curated genes according to the clinical signs

GP1772

Number of genes

13 Accredited laboratory test

Examined sequence length

1,4 kb (Core-/Core-canditate-Genes)
16,8 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	Referenz-Seq.	Heredity
GCDH	1317	608801	NM_000159.4	AR
ASPA	942	608034	NM_000049.4	AR
ETFA	1002	608053	NM_000126.4	AR
ETFB	768	130410	NM_001985.3	AR
ETFDH	1854	231675	NM_004453.4	AR
MCEE	531	608419	NM_032601.4	AR
MMAA	1257	607481	NM_172250.3	AR
MMAB	753	607568	NM_052845.4	AR
MMADHC	891	611935	NM_015702.3	AR
MMUT	2253	609058	NM_000255.4	AR
PCCA	2187	232000	NM_000282.4	AR
PCCB	1620	232050	NM_000532.5	AR
SUGCT	1416	609187	NM_001193311.2	Sus

Informations about the disease

Synonyms

Alias: Glutaric acidemia I
Alias: Glutaric acidemia type 1
Alias: Glutaric aciduria I
Alias: Glutaric aciduria type 1
Alias: Glutaryl-CoA dehydrogenase deficiency
Alias: Glutaryl-CoA-Dehydrogenase-Defizienz
Canavan disease (ASPA)
Glutaric acidemia IIA (ETFA)
Glutaric acidemia IIB (ETFB)
Glutaric acidemia IIB (ETFDH)
Glutaric aciduria III (SUGCT)
Glutaricaciduria, type I (GCDH)
Homocystinuria, cblD type, variant 1 (MMADHC)
Methylmalonic aciduria + homocystinuria, cblD type (MMADHC)
Methylmalonic aciduria, cblD type, variant 2 (MMADHC)
Methylmalonic aciduria, mut(0) type (MUT)
Methylmalonic aciduria, vitamin B12-responsive, cblA type (MMAA)
Methylmalonic aciduria, vitamin B12-responsive, cblB type (MMAB)
Methylmalonyl-CoA epimerase deficiency (MCEE)
Propionicacidemia (PCCA, PCCB)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined