About lcad deficiency

What is lcad deficiency?

Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD) is a rare genetic disorder of fatty acid metabolism that is transmitted as an autosomal recessive trait. It occurs when an enzyme needed to break down certain very long-chain fatty acids is missing or not working properly. VLCAD is one of the metabolic diseases known as fatty acid oxidation (FOD) diseases. In the past, the name long-chain acyl-CoA dehydrogenase deficiency (LCAD) was applied to one such disease, but today it is clear that all cases once thought to be LCAD are actually VLCAD.

The breakdown of fatty acids takes place in the mitochondria found in each cell. The mitochondria are small, well-defined bodies that are found in the cytoplasm of cells and in which the body generates energy from the breakdown of complex substances into simpler ones (mitochondrial oxidation).

Classically, two forms of VLCAD have been described: an early-onset, severe form which, if unrecognized and undiagnosed, may lead to extreme weakness of the heart muscles (cardiomyopathy) and may be life-threatening (VLCAD-C), and a later-onset, milder form, sometimes referred to as VLCAD-H, that is characterized by repeated bouts of low blood sugar (hypoglycemia). In reality, patients may present with a combination of symptoms and the disease is best though of as being a continuum. Since the advent of expanded newborn screening programs using tandem mass spectrometry technology, most VLCAD infants in the United States are being detected neonatal period.

What are the symptoms for lcad deficiency?

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that restricts the body from converting specific fats to energy, especially during periods of fasting.

  • The symptoms of LCAD deficiency appear during infancy or early childhood.
  • It involves hypoglycemia (low blood sugar), Lethargy (lack of energy) and muscle Weakness.
  • The individuals who are affected by this disorder are also highly susceptible to severe complications such as life-threatening heart problems and liver abnormalities.
  • The disorder also includes extensive muscle pain and rhabdomyolysis (breakdown of muscle tissue).
  • This destruction of muscle tissue secretes myoglobin that is further processed by the kidneys and released in the urine.
  • It is referred to as myoglobinuria.
  • Myoglobin causes the urine to be brown or red.
  • In both adults and children, VLCAD deficiency can be stimulated by repeated periods of illness, fasting or exercise.
  • Affected people of any age at vulnerable to experiencing recurrent enhanced acid levels in blood, referred to as metabolic acidosis, a sudden stop in breathing (respiratory arrest), and cardiac arrest.
  • Acute episodes may be life-threatening for the individual.
  • People having VCLAD deficiency may possess fatty infiltration or fat deposits along with hepatomegaly, which is the abnormal enlargement of the liver.
  • Poor muscle tone or hypotonia is also evident in patients with VCLAD deficiency.


Conditions
Hypoglycemia,Lethargy,Hypotonia,Photosensitive Retina
Drugs
Riboflavin,Intravenous glucose,Triheptanoin
Symptoms
Feeding difficulties,Lack of energy,Low blood sugar, weak muscle tone,Liver problems,Abnormalities in the light-sensitive tissue at the back of the eye

What are the causes for lcad deficiency?

Lcad deficiency stands for Long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) impairment is an uncommon disorder in which the body is unable to convert specific fats to energy, particularly when fasting (fasting).

Causes of Lcad deficiency

  • LCAD deficiency is caused by sudden changes in the HADHA gene.
  • The HADHA gene codes for a component of an enzyme complex known as mitochondrial trifunctional protein.
  • This enzyme complex works in mitochondria, which are the energy-producing centers of cells.
  • The mitochondrial trifunctional protein, as the name implies, includes three enzymes, each of which performs a separate role.
  • This enzyme complex is necessary for the breakdown of a kind of fat known as long-chain lipids.
  • Long-chain fatty acids can be present in milk and some oils.
  • These fatty acids are deposited in the fat tissues of the body.
  • The cardiac and muscles rely heavily on fatty acids for energy.
  • Fatty acids are also a significant source of energy for the liver and other tissues during fasting periods.
  • Mutations in the HADHA chromosome that produce LCHAD shortage affect one of the enzyme complex's activities.
  • These mutations inhibit long-chain fatty acid processing from meals and body fat.
  • As a consequence, these fatty acids do not turn into energy, which might result in symptoms of this illness, including lethargy and hypoglycemia. Long-chain fatty acids and partially digested fatty acids can also accumulate and cause harm to the liver, cardiac, muscles, and retina in the eye.
  • The other indications and signs of LCHAD shortage are caused by this aberrant accumulation.


Conditions
Hypoglycemia,Lethargy,Hypotonia,Photosensitive Retina
Drugs
Riboflavin,Intravenous glucose,Triheptanoin
Symptoms
Feeding difficulties,Lack of energy,Low blood sugar, weak muscle tone,Liver problems,Abnormalities in the light-sensitive tissue at the back of the eye

What are the treatments for lcad deficiency?

Lcad deficiency stands for Long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) impairment is an uncommon disorder in which the body is unable to convert specific fats to energy, particularly when fasting (fasting).

  • The primary goal of condition management and treatment is to prevent and control acute episodes.
  • For the first 6 months, newborns should not fast for longer than four hours (including at night).
  • This can be gradually raised to 8 hours over the next 6 months, then 8-12 hours after age 3.
  • Other protective methods include eating a low-fat, high-carbohydrate meal and feeding frequently (i.e., keeping periods of fasting to a minimum).
  • Other suggestions include taking low-fat dietary supplements and eating medium-chain triglycerides (e.g., MCT oil).
  • Carnitine (Carnitor) supplementation is rather contentious, and most metabolic specialists will wait for scientific proof of carnitine insufficiency to develop before recommending it.
  • Riboflavin, which was once suggested, does not appear to be useful.
  • If you are admitted for an acute episode, you may need to receive intravenous glucose (10% dextrose) and other supportive treatments right away.
  • All affected persons' families should receive genetic counseling. Furthermore, as previously said, the screening test of siblings is critical to aid in the detection and management of the problem.
  • The only other therapy options for this disease are symptomatic and supportive.


Conditions
Hypoglycemia,Lethargy,Hypotonia,Photosensitive Retina
Drugs
Riboflavin,Intravenous glucose,Triheptanoin
Symptoms
Feeding difficulties,Lack of energy,Low blood sugar, weak muscle tone,Liver problems,Abnormalities in the light-sensitive tissue at the back of the eye

What are the risk factors for lcad deficiency?

Lcad deficiency is an uncommon disorder in which the body is unable to convert specific fats to energy, particularly when fasting (fasting).

  • Lcad deficiency is inherited in an autosomal recessive fashion.
  • When an individual inherits one copy of an improper functioning gene from each parent, it leads to recessive genetic disorders.
  • Even if an individual receives one normal gene and one gene for the disease, the person will be subject to developing the disease.
  • However, they will not show symptoms.
  • There is a 25% chance of having an affected child with each pregnancy, if both the parents have defective genes.
  • The risk of having a child who is a carrier like the parents is 50% with each pregnancy.
  • There is a 25% chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%.
  • The risk is the same for males and females.
  • In addition, parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk of having children with a recessive genetic disorder.


Conditions
Hypoglycemia,Lethargy,Hypotonia,Photosensitive Retina
Drugs
Riboflavin,Intravenous glucose,Triheptanoin
Symptoms
Feeding difficulties,Lack of energy,Low blood sugar, weak muscle tone,Liver problems,Abnormalities in the light-sensitive tissue at the back of the eye

Is there a cure/medications for lcad deficiency?

Lcad deficiency stands for Long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) impairment is an uncommon disorder in which the body is unable to convert specific fats to energy, particularly when fasting (fasting).

Cure and Medications

  • The primary goal of condition management and treatment is to prevent and control acute episodes.
  • For the first 6 months, newborns should not fast for longer than four hours (including at night). This can be gradually raised to 8 hours over the next 6 months, then 8-12 hours after age 3.
  • Other protective methods include eating a low-fat, high-carbohydrate meal and feeding frequently (i.e., keeping periods of fasting to a minimum).
  • Other suggestions include taking low-fat dietary supplements and eating medium-chain triglycerides (e.g., MCT oil).
  • Carnitine (Carnitor) supplementation is rather contentious, and most metabolic specialists will wait for scientific proof of carnitine insufficiency to develop before recommending it.
  • Riboflavin, which was once suggested, does not appear to be useful.
  • If you are admitted for an acute episode, you may need to receive intravenous glucose (10% dextrose) and other supportive treatments right away.
  • All affected persons' families should receive genetic counseling. Furthermore, as previously said, the screening test of siblings is critical to aid in the detection and management of the problem.
  • The only other therapy options for this disease are symptomatic and supportive.


Conditions
Hypoglycemia,Lethargy,Hypotonia,Photosensitive Retina
Drugs
Riboflavin,Intravenous glucose,Triheptanoin
Symptoms
Feeding difficulties,Lack of energy,Low blood sugar, weak muscle tone,Liver problems,Abnormalities in the light-sensitive tissue at the back of the eye

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