short chain acyl-CoA dehydrogenase deficiency

Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) Description

Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare genetic disorder that affects the body's ability to convert certain fats into energy. This condition is characterized by an inherited mutation in the ACADM gene, which codes for the SCAD enzyme.

Key Features:

• Autosomal Recessive Inheritance: SCAD deficiency is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
• Fatty Acid Oxidation Disorder: SCAD deficiency is a disorder of mitochondrial fatty acid oxidation, which means that the body's cells are unable to properly break down certain fats for energy.

Symptoms:

• Poor Energy Levels: Individuals with SCAD deficiency often experience poor energy levels and fatigue.
• Developmental Delay: The condition can also lead to developmental delay in children.
• Metabolic Crises: In severe cases, SCAD deficiency can trigger metabolic crises, which are characterized by symptoms such as:
  • Poor appetite
  • Nausea and vomiting
  • Diarrhea
  • Extreme sleepiness
  • Irritable mood and behavior changes

Prevalence:

• Rare Condition: SCAD deficiency is a very rare condition, affecting only a small number of people worldwide.

References:

• [2] Short chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive genetic defect in fatty acid catabolism.
• [3] Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a very rare inborn error of mitochondrial fatty acid oxidation characterized by variable manifestations.
• [8] Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is a condition in which the body is unable to break down certain fats.

Signs and Symptoms of SCAD Deficiency

SCAD deficiency, also known as Short Chain Acyl-CoA Dehydrogenase Deficiency, is a rare genetic disorder that affects the body's ability to break down certain fatty acids. The signs and symptoms of this condition can vary in severity and may appear during infancy or early childhood.

Common Signs and Symptoms:

• Vomiting
• Low blood glucose (hypoglycemia)
• Lack of energy (lethargy)
• Episodes of intermittent metabolic acidosis
• Coma from elevated blood ammonia (hyperammonemic coma)
• Small head size (microcephaly)
• Weakness
• Tiredness or lack of energy (lethargy)

Early Signs:

• Sleeping longer or more often
• Behavior changes
• Irritable mood
• Poor appetite
• Fever
• Diarrhea
• Vomiting
• Trouble breathing

It's worth noting that most people with SCADD do not show symptoms, and a sudden and severe onset of symptoms, known as a metabolic crisis, can occur in some cases. The signs and symptoms of this condition vary, but early recognition and treatment are crucial to prevent long-term complications.

References:

• [1] Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood glucose (hypoglycemia), a lack of energy ... (Source: #4)
• [2-3] In affected individuals manifestations include seizures, developmental delay (delayed sitting/walking and/or speech/social interaction), failure to grow with ... (Source: #3)
• [5] Signs and Symptoms of SCAD Deficiency · Episodes of intermittent metabolic acidosis · Coma from elevated blood ammonia (hyperammonemic coma) ... (Source: #5)
• [8] Signs and Symptoms · Low blood sugar (hypoglycemia) · Small head size (microcephaly) · Weakness · Tiredness or lack of energy (lethargy) ... (Source: #8)
• [9] Early Signs · Sleeping longer or more often · Behavior changes · Irritable mood · Poor appetite · Fever · Diarrhea · Vomiting · Trouble breathing ... (Source: #9)

Short-chain acyl-CoA dehydrogenase deficiency (SCAD) can be diagnosed through various tests, which are crucial for identifying the condition and ruling out other potential causes.

Laboratory Testing The diagnosis of SCAD often begins with laboratory testing, which involves analyzing a small amount of blood or urine to detect specific acids and toxins that accumulate in the body when a child has this deficiency [2]. This initial testing can help identify individuals who may have SCAD, even if they do not exhibit any symptoms.

DNA Analysis The diagnosis of SCAD is usually confirmed through DNA analysis, which involves examining the genes responsible for the condition. Most patients with SCAD are homozygous or compound heterozygous for two specific variants in these genes [5]. This genetic testing can be performed on a blood sample and provides a definitive diagnosis.

Follow-up Testing After an initial diagnosis, follow-up testing may involve analyzing urine, blood, or skin samples to monitor the levels of certain acids and toxins that build up in the body when a child has SCAD. These tests help healthcare providers assess the severity of the condition and adjust treatment plans accordingly [4].

Newborn Screening Newborn screening for SCAD deficiency is also available, which involves testing a small amount of blood to detect specific markers associated with the condition [2]. This early detection can enable prompt intervention and improve outcomes for affected individuals.

Genetic Testing Genetic testing for SCAD can be performed on a blood sample and looks for changes (variants) in the pair of genes that cause the condition. This testing is essential for confirming a diagnosis and providing information about the likelihood of passing the condition to offspring [7].

Next-Generation Sequencing (NGS) Test A next-generation sequencing (NGS) test is also available for individuals with clinical signs and symptoms, suspicion of, or family history of Short-chain acyl-CoA dehydrogenase deficiency. This test is a comprehensive analysis that can identify the genetic variants responsible for SCAD [9].

In summary, diagnostic tests for short-chain acyl-CoA dehydrogenase deficiency include laboratory testing, DNA analysis, follow-up testing, newborn screening, genetic testing, and next-generation sequencing (NGS) testing. These tests work together to confirm a diagnosis and provide essential information for managing the condition.

References: [1] Not provided in context [2] Sep 15, 2024 — Screening for short-chain acyl-coa dehydrogenase deficiency​​ Newborn screening for SCAD deficiency is done using a small amount of blood ... [3] Not provided in context [4] Certain acids and toxins build up in the body when a child has a fatty acid oxidation disorder like SCAD. [5] by BT van Maldegem · 2010 · Cited by 91 — The diagnosis of SCADD is usually confirmed by DNA analysis. The majority of SCADD patients are homozygous or compound heterozygous for two ... [6] Not provided in context [7] Genetic testing, also called DNA testing, looks for changes (variants) in the pair of genes that cause SCAD. [8] Not provided in context [9] This is a next generation sequencing (NGS) test appropriate for individuals with clinical signs and symptoms, suspicion of, or family history of Short-chain ...

Based on the available information, it appears that there is no standard treatment plan for Short-chain acyl-CoA dehydrogenase (SCAD) deficiency, a condition that prevents the body from converting certain fats into energy [4]. However, certain treatments may be recommended for some children but not others [5].

In terms of drug treatment, there is limited information available. One study mentioned that treatment included frequent feedings and a low fat diet [7]. However, it's essential to note that this was a specific case study from 2008, and more recent or comprehensive information on drug treatment for SCAD deficiency is not readily available.

It seems that the primary approach to managing SCAD deficiency is through dietary adjustments, such as avoiding long periods without eating [3], rather than relying on specific medications. If you're looking for more detailed information on this topic, I'd be happy to try searching again or provide further clarification based on the provided context.

Differential Diagnosis for Short Chain Acyl-CoA Dehydrogenase Deficiency

Short chain acyl-CoA dehydrogenase deficiency (SCADD) is a disorder that requires accurate diagnosis to rule out other conditions. The differential diagnosis for SCADD includes several disorders that present similar symptoms.

• Isobutyryl-CoA dehydrogenase deficiency (IBDD): This condition, also known as IBDD, is another mitochondrial fatty acid oxidation disorder that can cause similar symptoms to SCADD [2].
• Ethylmalonic encephalopathy: This rare genetic disorder affects the mitochondria and can lead to neurological impairment, which is a symptom of SCADD [3].
• Mitochondrial respiratory chain defects: Defects in the mitochondrial respiratory chain can also present with similar symptoms to SCADD, including myopathy and neurologic impairment [4].

Other Conditions to Consider

In addition to these disorders, other conditions may be considered in the differential diagnosis for SCADD. These include:

• Congenital multicore myopathy: A rare genetic disorder that affects muscle development and can present with similar symptoms to SCADD [5].
• Isobutyrylglycinuria (IBG): This is a rare metabolic disorder that can cause accumulation of isobutyryl-CoA, leading to similar symptoms to SCADD [6].

Genetic Defects

Research has shown that genetic defects in the ACADS gene can lead to SCADD. Understanding these genetic defects is crucial for accurate diagnosis and treatment [7].

Symptoms and Causes

SCADD is caused by mutations in the ACADS gene, leading to a deficiency of short-chain acyl-CoA dehydrogenase. Symptoms range from infantile acidosis and neurologic impairment to myopathy [8].

References:

[1] Not provided (search results do not contain relevant information)

[2] Context 2: Isobutyryl-CoA dehydrogenase deficiency (IBDD) (OMIM 611283).

[3] Context 3: The differential diagnosis for short-chain acyl-coenzyme A dehydrogenase deficiency is: ethylmalonic encephalopathy, mitochondrial respiratory chain defects ...

[4] Context 3: The differential diagnosis for short-chain acyl-coenzyme A dehydrogenase deficiency is: ethylmalonic encephalopathy, mitochondrial respiratory chain defects ...

[5] Context 4: by I Tein · 1999 · Cited by 91 — Abstract. Objective: To determine an underlying genetic defect within the differential diagnosis of congenital multicore myopathy.

[6] Context 6: Short-chain acyl CoA dehydrogenase (SCAD) deficiency; Isobutyrl-CoA dehydrogenase (IBDH) deficiency; Ethylmalonic encephalopathy (EE); isobutyrylglycinuria (IBG)

[7] Context 7: by R Jethva · 2008 · Cited by 112 — Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a disorder of mitochondrial fatty acid oxidation that leads to the accumulation of butyrylcarnitine ...

[8] Context 8: Symptoms range from infantile acidosis and neurologic impairment to myopathy. It is caused by mutations in the ACADS gene, leading to a deficiency of short- ...