Short chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare autosomal recessive genetic disorder of fatty acid catabolism belonging to a group of diseases known as fatty acid oxidation disorders (FOD). It occurs because of a deficiency of the short-chain acyl-CoA dehydrogenase (SCAD) enzyme.

Although SCAD was initially thought to produce severe problems including progressive muscle weakness, hypotonia, acidemia, developmental delay, and even early death, it is now believed that this disorder is both more common and less severe in many cases than originally thought at the time of its discovery 20 years ago. Since the advent of expanded newborn screening programs using tandem mass spectrometry technology, many more SCAD infants are being detected, most of whom are well and asymptomatic.

When symptoms are present, they are variable, ranging from severe, neonatal acidosis to mild developmental delay with hypotonia.

SCAD deficiency is the deficiency of the enzyme short-chain acyl-CoA dehydrogenase in the body. It is a condition that prevents the body from converting certain fats into energy.

Symptoms of SCAD deficiency.

• Infants and small children suffer from failure to thrive because of the SCAD deficiency.
• It may also affect their development, feeding and normal physiological work.
• Infants also suffer from severe muscular dystonia due to this condition.
• Some infants with SCAD deficiency experience metabolic crisis that can involve Vomiting, low blood sugar, and Fatigue that can be life-threatening.
• Difficulty feeding and failure to grow at the expected rate are other symptoms.
• Some other symptoms may include poor muscle tone, Seizures, smaller head size (microcephaly), an enlarged liver, and an enlarged spleen.
• Abnormal facial and behavioral development is seen in the early childhood phase.
• Other symptoms can include Vomiting, low blood sugar, a lack of energy, poor feeding, and failure to gain weight and grow at the expected rate.
• Other features of this disorder may include poor muscle tone, Seizures, developmental delay, and small head size.
• Some individuals with SCAD deficiency do not display any symptoms until adulthood.
• In these cases, the main symptom is chronic muscle Weakness, while some may experience periods of pain, Nausea, and shortness of breath.
• Due to the wide variability of the disease, it is possible for individuals not to have any symptoms or to have symptoms so mild that they are never diagnosed.

Conditions
Prevents the body from converting certain fats into energy,Changes in ACADS genes
Drugs
Dietary changes,Avoid fasting,Supplements
Symptoms
Lack of energy,Vomiting,Low muscle development,Poor appetite

SCAD deficiency is the reduction of the short-chain acyl-CoA dehydrogenase enzyme in the body. this condition leads to a condition in the body that prevents from converting certain fats into energy.

Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar, a lack of energy, poor feeding, and failure to gain weight and grow at the expected rate. Other features of this disorder may include poor muscle tone, seizures, developmental delay, and small head size.

• Mutations in the ACADS gene cause SCAD deficiency. This gene provides instructions for making an enzyme called short-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called short-chain fatty acids.
• Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.
• Mutations in the ACADS gene lead to a shortage (deficiency) of the SCAD enzyme within cells. Without sufficient amounts of this enzyme, short-chain fatty acids are not metabolized properly.
• As a result, these fats are not converted into energy, which can lead to the signs and symptoms of this disorder, such as lethargy, hypoglycemia, and muscle weakness. It remains unclear why some people with SCAD deficiency never develop any symptoms.

Conditions
Prevents the body from converting certain fats into energy,Changes in ACADS genes
Drugs
Dietary changes,Avoid fasting,Supplements
Symptoms
Lack of energy,Vomiting,Low muscle development,Poor appetite

Short-chain acyl-CoA dehydrogenase-SCAD deficiency results in a medical condition that causes hindrance in a person’s metabolism. Moreover, the individual finds it challenging to convert fats into energy, especially during fasting.

• A mutation in the ACADS gene causes SCAD deficiency, resulting in improper instructions to the enzyme responsible for metabolizing long fatty acid chains in the energy.
• These disorder genes are passed to the child through a defective autosomal recessive pattern, i.e., a child carries one gene from each parent.
• SCAD’s deficiency symptoms like lethargy, vomiting, low blood sugar level, and muscle weakness may result in infants and early childhood.

Unfortunately, there is no standard treatment for SCAD deficiency, but it can be managed through the following methods:

• Avoid fasting: don’t spend a longer duration without eating. Perhaps, a person with SCAD deficiency should eat after short intervals. A metabolic doctor assists in the diet chart and feeding of the child. Moreover, SCAD deficiency patients need to take more meals than others.
• Diet: carbohydrate-rich diets will provide the necessary sugar to body that can be used as energy. However, low-fat food is added to the diet to avoid obesity.
• Supplements: L- carnitine, and Riboflavin are essential supplements for the carriers of this disorder because it helps the body to get maximum energy from the food. However, these supplements are only taken under the surveillance of medical experts.

Conditions
Prevents the body from converting certain fats into energy,Changes in ACADS genes
Drugs
Dietary changes,Avoid fasting,Supplements
Symptoms
Lack of energy,Vomiting,Low muscle development,Poor appetite

SCAD deficiency or short-chain acyl-CoA dehydrogenase results in of autosomal recessive pattern, i.e., a child carries one defective gene from each parent.

• SCAD- the inherited disorder prohibits the metabolism from converting fats into energy. This condition is led by the improper function of the enzyme responsible for metabolizing long fatty acid chains in the energy. The child who inherited the mutated gene will experience symptoms like lethargy, muscle weakness, vomiting, low blood sugar level, and poor appetite.
• However, this disorder is detectable through screening of the newborn. Moreover, it is associated with a risk of neuromuscular disorders.
• The neuromuscular disorders affect the nervous system that is associated with all the sensory and motor nerves that connect brains to the spinal cord of the body.
• This disorder may cause your muscles to be weak and have causes pains, spasms, and twitching.
• The autonomic neuromuscular disorder is associated with damage to nerves that affects the heart, body temperature, blood pressure, digestion, and more.
• Small fiber neuromuscular affects the nerve ending of the skin, and patients experience sensory disturbances that start in the feet and progress upwards.
• Neuropathic toxic neuropathy is resulted from a toxic and harmful substance in the body. Moreover, it damages the nerves away from the brain to the spinal cord.

Conditions
Prevents the body from converting certain fats into energy,Changes in ACADS genes
Drugs
Dietary changes,Avoid fasting,Supplements
Symptoms
Lack of energy,Vomiting,Low muscle development,Poor appetite

Short-chain acyl-CoA dehydrogenase or SCAD deficiency results in hindrance in a person’s metabolism. Moreover, the individual finds it challenging to convert fats into energy, especially during fasting.

• A mutation in the ACADS gene causes SCAD deficiency, resulting in improper instructions to the enzyme responsible for metabolizing long fatty acid chains in the energy.
• These disorder genes are passed to the child through a defective autosomal recessive pattern, i.e., a child carries one defective gene from each parent.
• SCAD’s deficiency symptoms like lethargy, vomiting, low blood sugar level, and muscle weakness may result in infants and early childhood. Unfortunately, there is no cure or medication for this disorder, but it can be regulated and managed through dietary changes.

• Avoid fasting: The situation for a child with SCAD deficiency worsens if they stay hungry for regular. Kids with this disorder often fed more than regular children and have a separate diet chart.
• Diet: carbohydrate-rich diets will provide the necessary sugar to the body that can be used as energy. However, low-fat food is added to the diet to avoid obesity.
• Supplements: L- carnitine, and Riboflavin are essential supplements for the carriers of this disorder because it helps the body to get maximum energy from the food. However, these supplements are only taken under the surveillance of medical experts.

Conditions
Prevents the body from converting certain fats into energy,Changes in ACADS genes
Drugs
Dietary changes,Avoid fasting,Supplements
Symptoms
Lack of energy,Vomiting,Low muscle development,Poor appetite