methylmalonic acidemia cblA type

Methylmalonic acidemia (MMA) cblA type, also known as cobalamin A (cblA) type, is a rare genetic disorder that affects the body's ability to process certain proteins and fats (lipids). This condition is caused by mutations in the MMAA gene [4].

The clinical features of MMA cblA type include:

• Abnormal circulating vitamin B12 concentration
• Decreased circulating adenosylcobalamin concentration
• Decreased methylmalonyl-CoA mutase activity

This disorder is characterized by gastrointestinal and neurometabolic symptoms, and it is classified into different subtypes based on the genetic mutations involved [9].

Children with MMA cblA type have trouble producing cobalamin enzymes A and B, which are necessary for the body to break down certain amino acids and lipids. This leads to an accumulation of toxic substances in the body, causing a range of symptoms and complications [7].

MMA cblA type is an autosomal recessive disorder, meaning that it is inherited from both parents and affects both males and females equally. It is a serious condition that requires prompt medical attention and treatment to manage its symptoms and prevent long-term damage [6].

Methylmalonic acidemia (MMA) CblA type is a rare genetic disorder that affects the body's ability to break down certain proteins and fats. The signs and symptoms of MMA CblA type can vary in severity and may appear at any time from birth to adulthood.

Common Signs and Symptoms:

• Vomiting [4]
• Dehydration [4]
• Poor weight gain or growth (failure to thrive) [4]
• Weak muscle tone (hypotonia) [2, 4]
• Tiredness or lack of energy (lethargy) [2]

Other Possible Symptoms:

• Abnormal circulating vitamin B12 concentration [1, 9]
• Thrombocytopenia (low platelet count) [1, 9]
• Episodic metabolic acidosis (build-up of acidic substances in the blood) [9]
• Hyperammonemia (high levels of ammonia in the blood) [9]
• Hyperglycinemia (high levels of glycine in the blood) [9]

Neurological Symptoms:

• Cognitive decline [6]
• Hypertensive encephalopathy (high blood pressure affecting the brain) [6]
• Unsteady gait [6]
• Myelopathy (damage to the spinal cord) [6]
• Behavioral changes [5, 6]

It's essential to note that the severity and presentation of MMA CblA type can vary significantly from person to person. If you suspect a child or adult may have this condition, it is crucial to consult with a qualified healthcare professional for proper diagnosis and treatment.

References: [1] - Clinical features · Anemia · Pancytopenia · Thrombocytopenia · Abnormal circulating vitamin B12 concentration · Decreased circulating adenosylcobalamin concentration. [2] - Jul 17, 2023 — Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delays, excessive tiredness (lethargy), an ... [4] - Sep 15, 2024 — Signs and Symptoms · Vomiting · Dehydration · Poor weight gain or growth (failure to thrive) · Weak muscle tone (hypotonia) · Tiredness or lack of ... [5] - Symptoms of a metabolic crisis are poor appetite, nausea, vomiting, diarrhea, extreme sleepiness, irritable mood and behavior changes. If not treated, breathing ... [6] - Sep 19, 2022 — Most presented with neurological symptoms including cognitive decline, hypertensive encephalopathy, unsteady gait, myelopathy, and behavioral ... [9] - Clinical features · Thrombocytopenia · Abnormal circulating vitamin B12 concentration · Dehydration · Episodic metabolic acidosis · Hyperammonemia · Hyperglycinemia.

Diagnostic Tests for Methylmalonic Acidemia cblA Type

Methylmalonic acidemia cblA type, a genetic disorder affecting the breakdown of proteins and fats, can be diagnosed through various tests. Here are some of the diagnostic tests used to confirm this condition:

• Urine Organic Acid Analysis: A definitive diagnosis is based on urine organic acid analysis using gas chromatography/mass spectrometry (GC/MS) [1][2]. This test detects elevated levels of methylmalonic acid in the urine.
• Enzyme Analysis: Definitive diagnosis is made after enzyme analysis of fibroblasts to search for the specific enzyme abnormality [3].
• Complete Blood Cell (CBC) Counts: CBC counts may be performed to evaluate the individual's overall health and detect any abnormalities [4].
• Newborn Screening: Newborn screening programs can identify methylmalonic acidemia cblA type through blood tests, although this is not a definitive diagnostic test [5].
• Genetic Testing: Genetic testing, such as next-generation sequencing, can be used to detect single nucleotide and copy number variants in the MMAA gene associated with methylmalonic aciduria [6].

These diagnostic tests are essential for confirming the diagnosis of methylmalonic acidemia cblA type and guiding further management.

References:

[1] F Keyfi · 2016 · Cited by 41 — A definitive diagnosis of the disorder is based on urine organic acid analysis using gas chromatography/mass spectrometry (GC/MS) [6, 7].

[2] F Keyfi · 2016 · Cited by 41 — Organic acids can be detected in the urine through GC/MS.

[3] Jul 17, 2023 — Genetic Testing Information · Definitive diagnosis is made after enzyme analysis of fibroblasts to search for the specific enzyme abnormality.

[4] Sep 19, 2022 — Definitive diagnosis is made after enzyme analysis of fibroblasts in search of the specific enzyme abnormality. Complete blood cell (CBC) counts may be performed.

[5] Sep 15, 2024 — Find information about newborn screening for Methylmalonic acidemia (cobalamin disorders), including causes, signs, symptoms, and treatment.

[6] This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 25 genes associated with methylmalonic aciduria.

Methylmalonic acidemia (MMA) cblA type is a rare genetic disorder that affects the body's ability to break down certain amino acids, leading to the accumulation of toxic substances in the blood. The drug treatment for MMA cblA type typically involves a combination of medications and dietary modifications.

Medications:

• Cobalamin (Vitamin B12): Given as an injection, cobalamin helps to reduce the levels of methylmalonic acid in the blood [4].
• L-carnitine: This medication is used to remove excess toxic acylcarnitine species from the mitochondria, which can help alleviate symptoms [5].
• Carglumic acid (Carbaglu): Approved as an adjunct to standard-of-care for the treatment of hyperammonemia due to MMA [2].

Dietary Modifications:

• Protein restriction: Limiting protein intake in the diet can help reduce the production of methylmalonic acid [4].
• Valine, isoleucine, methionine, and threonine restriction: These amino acids should be limited in the diet to prevent their accumulation in the blood [8].

Additional Treatment:

• Forced diuresis and alkalinization of urine: This may help eliminate methylmalonic acid from the body by increasing its excretion through the kidneys [9].
• Hydration with high caloric supplementation: Providing adequate hydration and nutrition is essential to support overall health and well-being [6].

It's essential to note that each individual with MMA cblA type may require a tailored treatment plan, taking into account their specific needs and medical history. Consultation with a healthcare professional or a specialist in genetic disorders is recommended for accurate diagnosis and effective management of the condition.

References:

[1] Not applicable (search results do not contain relevant information on this topic)

[2] 2. Sep 19, 2022 — Consider carglumic acid (Carbaglu), which was approved as an adjunct to standard-of-care for the treatment of hyperammonemia due to MMA.

[3] Not applicable (search results do not contain relevant information on this topic)

[4] Apr 20, 2012 — Medication treatment consists cobalamin (vitamin B12) given as an injection, carnitine, and antibiotics. The diet is protein restricted to limit ...

[5] Mar 15, 2019 — Patients with MMA are treated with L-carnitine to remove excess toxic acylcarnitine species from the mitochondria.

[6] Management · Stop all protein intake · Provide hydration with high caloric supplementation · Correct biochemical abnormalities · Eliminate toxic metabolites · Treat ...

[7] Jul 17, 2023 — Without treatment, this disorder can lead to coma and death in some cases. Frequency.

[8] by D Wesół-Kucharska · 2020 · Cited by 6 — The basic chronic management in patients with MMA is a diet with limitation of valine, isoleucine, methionine and threonine, supplemented by preparations with ...

[9] by MR Baumgartner · 2014 · Cited by 697 — In MMA, forced diuresis and alkalinisation of urine with sodium bicarbonate may help to eliminate methylmalonic acid due to its high renal ...

Methylmalonic acidemia (MMA) cblA type is a rare genetic disorder that affects the body's ability to break down certain amino acids and lipids, leading to the accumulation of toxic substances. When it comes to differential diagnosis, several conditions can be considered in conjunction with MMA cblA type.

• Combined malonic and methylmalonic aciduria: This condition shares some similarities with MMA cblA type, as both involve the accumulation of organic acids in the urine. However, combined malonic and methylmalonic aciduria is caused by a different enzyme defect (1).
• Acquired cobalamin depletion or inherited cobalamin deficiencies: These conditions can also present with elevated levels of methylmalonic acid in the urine, making them potential differential diagnoses for MMA cblA type. However, they are typically associated with other clinical features such as anemia and pancytopenia (2).
• MA with homocystinuria: This condition is caused by defects in cobalamin metabolism and can be differentiated from MMA cblA type based on the presence of homocysteine in the urine. However, it shares some similarities with MMA cblA type in terms of clinical presentation (5).
• Propionic acidemia: This condition involves the accumulation of propionic acid in the body and can present with similar symptoms to MMA cblA type, such as developmental delay and seizures. However, it is caused by a different enzyme defect and has distinct biochemical features (3).

It's essential to note that differential diagnosis for MMA cblA type requires a comprehensive evaluation of clinical symptoms, laboratory results, and genetic testing. A definitive diagnosis can be made using urine organic acid analysis with gas chromatography/mass spectrometry (GC/MS) (6, 7).