Malonyl-CoA decarboxylase deficiency

Malonyl-CoA decarboxylase deficiency
Malonyl-CoA
OMIM	248360
DiseasesDB	33804

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Malonyl-CoA decarboxylase deficiency (or Malonic aciduria) is an autosomal recessive metabolic disorder caused by a genetic mutation which disrupts the activity of Malonyl-Coa decarboxylase. This enzyme breaks down Malonyl-CoA (a fatty acid precursor and a fatty acid oxidation blocker) into Acetyl-CoA and carbon dioxide.

Diagnosis

Without the enzymatic activity of Malonyl-CoA decarboxylase, cellular Mal-CoA increases so dramatically that at the end it is instead broken down by an unspecific short-chain acyl-CoA hydrolase which produces malonic acid and CoA. Malonic acid is a krebs cycle inhibitor preventing the cells to make ATP through oxidation.

In this condition, the cells, to make ATP, are forced to increase glycolysis which produces lactic acid as a by-product. The increase of lactic and malonic acid drastically lowers blood pH, and causes both lactic and malonic aciduria (acidic urine).

The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency. This condition is very rare, as fewer than 20 cases have been reported.

Pathophysiology

Malonyl-CoA decarboxylase deficiency has an autosomal recessive pattern of inheritance.

Mutations in the MLYCD gene cause malonyl-CoA decarboxylase deficiency. The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Within cells, this enzyme helps regulate the formation and breakdown of a certain group of fats called fatty acids.

Many tissues, including heart muscle, use fatty acids as a major source of energy. Mutations in the MLYCD gene reduce or eliminate the function of malonyl-CoA decarboxylase. A lack of this enzyme disrupts the normal balance of fatty acid formation and breakdown. As a result, fatty acids cannot be converted to energy, which can lead to characteristic features of this disorder such as low blood sugar and cardiomyopathy. By-products of fatty acid processing build up in tissues, which also contributes to the signs and symptoms of malonyl-CoA decarboxylase deficiency.

Malonyl-CoA decarboxylase deficiency is inherited in an autosomal recessive pattern. This means the defective gene is located on an autosome, and two copies of the defective gene - one inherited from each parent - are required to be born with the disorder. The parents of a child with an autosomal recessive disorder both carry one copy of the defective gene, but are usually not affected by the disorder.

External links

• Overview of condition at NLM Genetics Home Reference

Cost Effectiveness of Malonyl-CoA decarboxylase deficiency

| group5 = Clinical Trials Involving Malonyl-CoA decarboxylase deficiency | list5 = Ongoing Trials on Malonyl-CoA decarboxylase deficiency at Clinical Trials.gov • Trial results on Malonyl-CoA decarboxylase deficiency • Clinical Trials on Malonyl-CoA decarboxylase deficiency at Google

| group6 = Guidelines / Policies / Government Resources (FDA/CDC) Regarding Malonyl-CoA decarboxylase deficiency | list6 = US National Guidelines Clearinghouse on Malonyl-CoA decarboxylase deficiency • NICE Guidance on Malonyl-CoA decarboxylase deficiency • NHS PRODIGY Guidance • FDA on Malonyl-CoA decarboxylase deficiency • CDC on Malonyl-CoA decarboxylase deficiency

| group7 = Textbook Information on Malonyl-CoA decarboxylase deficiency | list7 = Books and Textbook Information on Malonyl-CoA decarboxylase deficiency

| group8 = Pharmacology Resources on Malonyl-CoA decarboxylase deficiency | list8 = AND (Dose)}} Dosing of Malonyl-CoA decarboxylase deficiency • AND (drug interactions)}} Drug interactions with Malonyl-CoA decarboxylase deficiency • AND (side effects)}} Side effects of Malonyl-CoA decarboxylase deficiency • AND (Allergy)}} Allergic reactions to Malonyl-CoA decarboxylase deficiency • AND (overdose)}} Overdose information on Malonyl-CoA decarboxylase deficiency • AND (carcinogenicity)}} Carcinogenicity information on Malonyl-CoA decarboxylase deficiency • AND (pregnancy)}} Malonyl-CoA decarboxylase deficiency in pregnancy • AND (pharmacokinetics)}} Pharmacokinetics of Malonyl-CoA decarboxylase deficiency •

| group9 = Genetics, Pharmacogenomics, and Proteinomics of Malonyl-CoA decarboxylase deficiency | list9 = AND (pharmacogenomics)}} Genetics of Malonyl-CoA decarboxylase deficiency • AND (pharmacogenomics)}} Pharmacogenomics of Malonyl-CoA decarboxylase deficiency • AND (proteomics)}} Proteomics of Malonyl-CoA decarboxylase deficiency

| group10 = Newstories on Malonyl-CoA decarboxylase deficiency | list10 = Malonyl-CoA decarboxylase deficiency in the news • Be alerted to news on Malonyl-CoA decarboxylase deficiency • News trends on Malonyl-CoA decarboxylase deficiency</small>

| group11 = Commentary on Malonyl-CoA decarboxylase deficiency | list11 = Blogs on Malonyl-CoA decarboxylase deficiency

| group12 = Patient Resources on Malonyl-CoA decarboxylase deficiency | list12 = Patient resources on Malonyl-CoA decarboxylase deficiency • Discussion groups on Malonyl-CoA decarboxylase deficiency • Patient Handouts on Malonyl-CoA decarboxylase deficiency • Directions to Hospitals Treating Malonyl-CoA decarboxylase deficiency • Risk calculators and risk factors for Malonyl-CoA decarboxylase deficiency

| group13 = Healthcare Provider Resources on Malonyl-CoA decarboxylase deficiency | list13 = Symptoms of Malonyl-CoA decarboxylase deficiency • Causes & Risk Factors for Malonyl-CoA decarboxylase deficiency • Diagnostic studies for Malonyl-CoA decarboxylase deficiency • Treatment of Malonyl-CoA decarboxylase deficiency

| group14 = Continuing Medical Education (CME) Programs on Malonyl-CoA decarboxylase deficiency | list14 = CME Programs on Malonyl-CoA decarboxylase deficiency

| group15 = International Resources on Malonyl-CoA decarboxylase deficiency | list15 = Malonyl-CoA decarboxylase deficiency en Espanol • Malonyl-CoA decarboxylase deficiency en Francais

| group16 = Business Resources on Malonyl-CoA decarboxylase deficiency | list16 = Malonyl-CoA decarboxylase deficiency in the Marketplace • Patents on Malonyl-CoA decarboxylase deficiency

| group17 = Informatics Resources on Malonyl-CoA decarboxylase deficiency | list17 = List of terms related to Malonyl-CoA decarboxylase deficiency

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