ethylmalonic encephalopathy

Ethylmalonic encephalopathy (EE) is a rare and inherited disorder that affects several body systems, particularly the nervous system [1]. It is characterized by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis, and other symptoms [4].

The disorder causes damage to the brain, nerves, and blood vessels, leading to a range of symptoms that are present at birth and tend to worsen over time [5]. These symptoms include:

• Progressively delayed development
• Weak muscle tone (hypotonia)
• Seizures
• Abnormal movements
• Rashes of tiny red spots (petechiae)
• Blue discoloration in hands and feet (acrocyanosis)

EE is also associated with neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, seizures, recurrent petechiae, and other neurological symptoms [3][8].

Overall, ethylmalonic encephalopathy is a serious and progressive disorder that requires prompt medical attention.

Ethylmalonic encephalopathy (EME) is a rare genetic disorder that affects the nervous system, muscles, and other parts of the body. The signs and symptoms of EME can vary in severity and may include:

• Delayed development: Children with EME may experience delayed development, which can manifest as slow growth, delayed speech, or difficulty with motor skills [1][2].
• Weak muscle tone (hypotonia): Individuals with EME often have weak muscles, which can lead to difficulties with movement and balance [3][4].
• Seizures: Seizures are a common symptom of EME, and they can range from mild to severe [5][6].
• Abnormal movements: People with EME may experience abnormal movements, such as tremors or muscle spasms [7].
• Chronic diarrhea: Gastrointestinal symptoms, including chronic diarrhea, are also associated with EME [8].
• Vascular lesions: Vascular lesions, such as petechial purpura and orthostatic acrocyanosis, can occur in individuals with EME [9].

It's essential to note that the signs and symptoms of EME can vary from person to person, and not everyone will experience all of these symptoms. If you suspect that someone may have EME, it's crucial to consult a medical professional for an accurate diagnosis and treatment plan.

References:

[1] Context 1: Aug 1, 2017 — Neurological signs and symptoms include delayed development and the loss of previously acquired skills (developmental regression), weak muscle ...

[2] Context 4: What are the signs and symptoms? · Delayed development · Loss of skills (developmental regression) · Weak muscle tone (hypotonia) · Seizures · Abnormal movements ...

[3] Context 5: Sep 15, 2024 — Signs and Symptoms · Weak muscles (hypotonia) · Seizures · Red rash · Developmental delay · Blue-ish hands and feet · Chronic diarrhea ...

[4] Context 7: Aug 1, 2017 — Neurological signs and symptoms include delayed development and the loss of previously acquired skills (developmental regression), weak muscle ...

[5] Context 8: by AR TAVASOLI · 2017 · Cited by 9 — Ethylmalonic encephalopathy is clinically characterized by the early onset of neurological degeneration, hypotonia, psychomotor retardation, seizure, spastic ...

[6] Context 9: Ethylmalonic acid encephalopathy (EE) is defined by elevated excretion of ethylmalonic acid (EMA) with recurrent petechiae, orthostatic acrocyanosis and.

Note: The context numbers refer to the corresponding search results provided in the context block.

Ethylmalonic encephalopathy (EME) can be diagnosed through various tests, which are crucial for an accurate diagnosis.

Blood and Urine Tests High amounts of ethylmalonic acid and lactic acid in the urine and high amounts of C4 and C5 acylcarnitine in the blood might indicate that your baby has EME [5]. These tests can help identify the presence of these substances, which are associated with the disorder.

Genetic Tests Molecular Genetics Tests, such as mutation scanning of select exons, sequence analysis of select exons, deletion/duplication analysis, and sequence analysis of the entire coding region, can be used to diagnose EME [3][9]. These tests can help identify genetic mutations that cause the disorder.

Newborn Screening Newborn screening for Ethylmalonic encephalopathy requires collecting a small amount of blood from your baby's heel. This test can detect elevated levels of ethylmalonic acid in the blood, which is indicative of EME [2].

Other Tests Your medical team may also use specialized blood and urine tests to diagnose the disorder. They may also complete an MRI scan of your baby's brain to rule out other conditions that may be causing similar symptoms [6].

Treatment Options for Ethylmalonic Encephalopathy

Ethylmalonic encephalopathy (EE) is a rare genetic disorder that affects the body's ability to break down certain compounds, leading to the accumulation of toxic substances. While there is no cure for EE, various drug treatments have been explored to manage its symptoms.

Antioxidants and Antibiotics

Treatment includes antioxidants, such as N-acetylcysteine (NAC), which can help lower levels of hydrogen sulfide (H2S) in the body [1]. Antibiotics that target H2S-producing bacteria may also be prescribed to reduce the production of this toxic compound [4].

Antispastic Medications

In addition to antioxidants and antibiotics, antispastic medications are often used to manage muscle spasms and rigidity associated with EE [5]. These medications can help alleviate symptoms and improve quality of life.

Combined Treatment

A combined treatment approach involving oral metronidazole and N-acetylcysteine has been shown to be effective in managing EE [3, 6]. This combination therapy may help lower H2S levels and promote detoxification.

Supportive Care

While these treatments can help manage symptoms, it's essential to note that there is currently no cure for EE. Supportive care, including antispasticity medications, muscle relaxants, and early institution of treatment, is crucial in managing the condition [5].

References:

[1] M Ersoy (2020) - Treatment includes antioxidants, antibiotics that lower H2S levels and antispastic medications, which are not curative.

[3] C Viscomi (2010) - Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.

[4] M Ersoy (2020) - Treatment includes antioxidants, antibiotics that lower H2S levels and antispastic medications, which are not curative.

[5] P Govindaraj (2020) - Treatment is largely supportive and includes use of antispasticity medications, muscle relaxants, anticonvulsants, and early institution of treatment.

[6] C Dionisi-Vici (2016) - Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.

Ethylmalonic encephalopathy (EE) can be challenging to diagnose due to its overlapping symptoms with other conditions. The differential diagnosis for EE includes:

• Multiple acyl-CoA dehydrogenase deficiency (MADD), which is a genetic disorder that affects the body's ability to break down fatty acids [1][2].
• Other metabolic disorders, such as methylmalonic acidemia and propionic acidemia, which can also present with similar symptoms like seizures, developmental delay, and petechiae [3][4].
• Hematologic disorders, such as meningococcemia and septic shock, which can mimic the clinical presentation of EE [5].
• Connective tissue disorders, such as Ehlers-Danlos syndrome, which can also present with similar symptoms like skin lesions and joint hypermobility [6].

It's essential to note that a definitive diagnosis of EE is based on laboratory findings, including increased blood lactate levels, C4- and C5-acylcarnitine, and ethylmalonic aciduria [7]. A thorough clinical evaluation and genetic testing can help differentiate EE from other conditions.

References: [1] Context 2 [2] Context 6 [3] Context 5 [4] Context 6 [5] Context 8 [6] Context 8 [7] Context 7