MCEE gene related symptoms and diseases

All the information presented here about the MCEE gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to MCEE gene

Symptoms // Phenotype	% Cases
Failure to thrive	Very Common - Between 80% and 100% cases
Gastroesophageal reflux	Very Common - Between 80% and 100% cases
Methylmalonic aciduria	Very Common - Between 80% and 100% cases
Ketonuria	Very Common - Between 80% and 100% cases
Tachypnea	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MCEE gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Dehydration
Aciduria
Metabolic acidosis
Acidosis
Spasticity
Dystonia
Diarrhea
Vomiting

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MCEE gene

Here you will find a list of rare diseases related to the MCEE. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Alternate names

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa racemase deficiency, methylmalonyl-coa racemase deficiency, methylmalonic aciduria due to methylmalonyl-coa racemase deficiency, methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency, mcee deficie

Description

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

Most common symptoms of METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Failure to thrive
Spasticity
Motor delay
Macrocephaly
Hydrocephalus

More info about METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

SOURCES: ORPHANET MESH OMIM

Search interest in MCEE

Potential gene panels for MCEE gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

MCEE gene related symptoms and diseases

Top 5 symptoms and clinical features associated to MCEE gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to MCEE gene

METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Alternate names

Description

Most common symptoms of METHYLMALONIC ACIDEMIA DUE TO METHYLMALONYL-COA EPIMERASE DEFICIENCY

Search interest in MCEE

Potential gene panels for MCEE gene

MitoMet®Plus aCGH Analysis Panel

MCEE Comprehensive - Sequence & Deletion/Duplication Analysis Panel

MCEE Deletion/Duplication Analysis Panel

MCEE Sequence Analysis Panel

MCEE Sequence Analysis (Prenatal Diagnosis) Panel

Methylmalonic Acidemia Sequencing NextGen Panel Panel

Epimerase Deficiency - MCEE Sequencing Panel

Dystonia Exome Panel Panel

Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication Panel

MCEE. Complete sequencing Panel

Methylmalonic aciduria (NGS panel for 15 genes) Panel

MCEE-Related Methylmalonic Acidemia Panel

Methylmalonic Acidemia Sequencing Panel with CNV Detection Panel

Methlymalonyl-CoA Epimerase Deficiency via MCEE Gene Sequencing with CNV Detection Panel

Organic Aciduria Sequencing Panel with CNV Detection Panel

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Sequencing Panel with CNV Detection Panel

Neurogenetic Disorders - panels Panel

Methylmalonic Acidemia Sequential Panel Panel

Comprehensive mitochondrial disorders panel Panel

AllNeuro panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Methylmalonic Aciduria and Homocystinuria Panel

qCarrier Plus Panel

Invitae Organic Acidemias Panel Panel

Invitae Methylmalonic Acidemia Panel Panel

Invitae Metabolic Disorders Newborn Screening Confirmation Panel Panel

Inherited Metabolic Disorders: Sequencing Panel Panel

Cobalamin Homocysteine Methionine Deficiency NGS Panel Panel

Methylmalonic Acid Metabolism NGS Panel Panel

Nuclear-Mito NGS Panel Panel

MCEE Panel

Organic Acidemia/Aciduria & Cobalamin Deficiency Panel Panel

Comprehensive Metabolism Panel Panel

METHYLMALONYL-CoA EPIMERASE DEFICIENCY Panel

Baby Genes Targeted Panel Panel

METHYLMALONIC ACIDEMIA, VITAMIN B12-UNRESPONSIVE Panel

METHYLMALONIC ACIDEMIA: NGS PANEL Panel

CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel

CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel

Methylmalonyl-CoA epimerase deficiency: Full gene sequencing (Rapid testing) Panel

Isolated Methylmalonic Acidemia: gene sequencing panel Panel