Methylmalonic Aciduria Precision Panel

Overview

Methylmalonic Aciduria/Acidemia (MMA) is an autosomal recessive disorder of the amino acid metabolism with a defect localized in the conversion of methylmalonyl-coenzyme A (CoA) into succinyl-CoA. The body is therefore unable to process certain proteins and lipids properly. This causes an accumulation of methylmalonic acid in the organisms which manifests in the form of neurologic symptoms such as seizures, encephalopathy, and stroke. It is a lethal, severe heterogeneous disorder involving methylmalonate and cobalamin metabolism with poor prognosis. This disorder can be identified isolated or combined with other organic acidemias.
The Igenomix Methylmalonic Aciduria Precision Panel can be used to make an accurate and directed diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

The clinical utility of this panel is:

The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ABCD4*	Methylmalonic Aciduria And Homocystinuria	AR	100	8 of 8
*ACSF3*	Combined Malonic And Methylmalonic Aciduria	AR	100	27 of 27
*CCN6*	Progressive Pseudorheumatoid Arthropathy Of Childhood	AR	100	NA of NA
*CD320*	Methylmalonic Aciduria	AR	89	2 of 2
*HCFC1*	Methylmalonic Acidemia And Homocysteinemia, X-linked Non-Syndromic Intellectual Disability	X,XR,G	99.81	NA of NA
*LMBRD1*	Methylmalonic Aciduria And Homocystinuria	AR	99.88	8 of 8
*MCEE*	Methylmalonyl-CoA Epimerase Deficiency	AR	100	5 of 6
*MLYCD*	Malonyl-CoA Decarboxylase Deficiency	AR	93.84	32 of 40
*MMAA*	Methylmalonic Aciduria	AR	99.98	77 of 77
*MMAB*	Methylmalonic Aciduria	AR	99.52	43 of 43
*MMACHC*	Methylmalonic Aciduria And Homocystinuria	AR	99.97	105 of 105
*MMADHC*	Methylmalonic Aciduria And Homocystinuria	AR	99.63	20 of 20
*MMUT*	Methylmalonic Aciduria Due To Methylmalonyl-CoA Mutase Deficiency	AR	99.97	NA of NA
*MTR*	Methylcobalamin Deficiency, Folate-Sensitive Neural Tube Defects	AR	99.94	42 of 45
*PRDX1*	Methylmalonic Aciduria And Homocystinuria	AR	100	3 of 3
*SUCLA2*	Mitochondrial DNA Depletion Syndrome (Encephalomyopathic With Or Without Methylmalonic Aciduria)	AR	100	27 of 27
*SUCLG1*	Mitochondrial DNA Depletion Syndrome (Encephalomyopathic Type With Methylmalonic Aciduria)	AR	100	34 of 34
*TCN2*	Transcobalamin Deficiency	AR	100	25 of 27

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD