Question: What is (are) Medium-chain acyl-coenzyme A dehydrogenase deficiency ?
Answer: Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. People with MCADD do not have enough of an enzyme needed for the step that metabolizes a group of fats called medium-chain fatty acids. MCADD is caused by mutations in the ACADM gene and is inherited in an autosomal recessive manner. Treatment includes avoidance of fasting and of medium chain triglycerides in the diet.
Source: GARD

Question: What are the symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency ?
Answer: What are the signs and symptoms of Medium-chain acyl-coenzyme A dehydrogenase deficiency? The initial signs and symptoms of medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) typically occur during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood sugar (hypoglycemia). In rare cases, the first episode of problems related to MCADD occurs during adulthood. The signs and symptoms of MCADD can be triggered by periods of fasting, or during illnesses such as viral infections, particularly when eating is reduced. People with MCADD are also at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden, unexpected death. The Human Phenotype Ontology provides the following list of signs and symptoms for Medium-chain acyl-coenzyme A dehydrogenase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebral edema - Coma - Decreased plasma carnitine - Elevated hepatic transaminases - Hepatic steatosis - Hepatomegaly - Hyperglycinuria - Hypoglycemia - Lethargy - Medium chain dicarboxylic aciduria - Muscular hypotonia - Seizures - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Medium-chain acyl-coenzyme A dehydrogenase deficiency ?
Answer: What causes medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency? Mutations in the ACADM gene cause medium-chain acyl-coenzyme A dehydrogenase deficiency. Mutations in the ACADM gene lead to inadequate levels of an enzyme called medium-chain acyl-coenzyme A dehydrogenase. Without sufficient amounts of this enzyme, medium-chain fatty acids from food and fats stored in the body are not metabolized properly. As a result, these fats are not converted to energy, which can lead to characteristic signs and symptoms of this disorder such as lethargy and low blood sugar. Medium-chain fatty acids or partially metabolized fatty acids may accumulate in tissues and can damage the liver and brain, causing serious complications.
Source: GARD

Question: Is Medium-chain acyl-coenzyme A dehydrogenase deficiency inherited ?
Answer: How is medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency inherited? Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. Usually, the parents of a person with an autosomal recessive condition each have one mutated copy of the gene and are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be a carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
Source: GARD

Question: How to diagnose Medium-chain acyl-coenzyme A dehydrogenase deficiency ?
Answer: How is medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) diagnosed? MCADD is now included in many newborn screening programs. If a newborn screening result for MCADD is not in the normal range, additional testing is recommended. A diagnosis of MCADD can be made through a blood test called a plasma acylcarnitine profile and an evaluation of organic acids in the urine. The diagnosis can also be confirmed by genetic testing.
Source: GARD