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methylmalonic aciduria and homocystinuria type cblF
ICD-10 Codes
Description
Methylmalonic aciduria and homocystinuria type cblF, also known as methylmalonic acidemia with homocystinuria due to a defect in the MTR gene, is a rare genetic disorder that affects the body's ability to process certain amino acids and fats.
Causes and Symptoms
This condition is caused by a deficiency of the enzyme methionine synthase (MTR), which is necessary for the metabolism of vitamin B12. The symptoms of methylmalonic aciduria and homocystinuria type cblF can vary in severity, but may include:
- Megaloblastic anemia
- Lethargy
- Failure to thrive
- Developmental delay
- Intellectual disability
Genetic Heterogeneity
Methylmalonic aciduria and homocystinuria type cblF is a genetically heterogeneous disorder, meaning that it can be caused by mutations in different genes. The MTR gene is responsible for encoding the enzyme methionine synthase, which plays a crucial role in the metabolism of vitamin B12.
Inheritance Pattern
This condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Carriers of the mutation may not show symptoms but can pass the mutated gene to their offspring.
Diagnosis and Treatment
The diagnosis of methylmalonic aciduria and homocystinuria type cblF is typically made through a combination of clinical evaluation, laboratory tests (such as blood and urine analysis), and genetic testing. There is no specific treatment for this condition, but management strategies may include:
- Vitamin B12 supplementation
- Dietary modifications to reduce the intake of certain amino acids and fats
- Monitoring for complications such as anemia and developmental delay
Prognosis
The prognosis for individuals with methylmalonic aciduria and homocystinuria type cblF can vary depending on the severity of the symptoms and the effectiveness of management strategies. In some cases, early diagnosis and treatment may help to improve outcomes.
References:
- [1] Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism.
- [2] A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, ...
- [3] The defect causes a deficiency of the enzyme methionine synthase (MTR), which is necessary for the metabolism of vitamin B12.
- [4] Methylmalonic aciduria and homocystinuria type cblF is inherited in an autosomal recessive manner.
Additional Characteristics
- Methylmalonic aciduria and homocystinuria type cblF
- methylmalonic acidemia with homocystinuria due to a defect in the MTR gene
- combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism.
- a form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism
- Methylmalonic aciduria and homocystinuria type cblF is inherited in an autosomal recessive manner.
Signs and Symptoms
Based on the search results, here are the signs and symptoms associated with methylmalonic aciduria and homocystinuria type cblF:
- Developmental delay: Patients with this condition can experience delayed growth and development [7].
- Megaloblastic anemia: This is a common feature of methylmalonic acidemia with homocystinuria, characterized by symptoms such as pallor, fatigue, and weakness [5].
- Neurological problems: Eye abnormalities, weak muscle tone (hypotonia), and seizures are also common in people with this condition [1][2][3].
- Delayed growth and weight gain: Children with methylmalonic aciduria and homocystinuria type cblF may experience delayed growth and weight gain [8][9].
It's worth noting that the early signs of this condition can be non-specific and may include symptoms such as vomiting, poor appetite, diarrhea, fever, and sleeping longer or more often [8]. However, these symptoms are not unique to methylmalonic aciduria and homocystinuria type cblF and may require further investigation to determine their underlying cause.
References: [1] Context result 1 [2] Context result 2 [3] Context result 3 [5] Context result 5 [7] Context result 7 [8] Context result 8 [9] Context result 9
Additional Symptoms
- Developmental delay
- Neurological problems
- Delayed growth and weight gain
- anemia
Diagnostic Tests
Diagnostic Tests for Methylmalonic Aciduria and Homocystinuria Type CblF
Methylmalonic aciduria and homocystinuria type CblF is a rare genetic disorder that affects the body's ability to process certain protein building blocks. Diagnostic tests are essential to confirm this condition. Here are some of the diagnostic tests used for methylmalonic aciduria and homocystinuria type CblF:
- Clinical Exome Sequencing: This test uses next-generation sequencing to detect single nucleotide and copy number variants in 25 genes associated with methylmalonic aciduria (1, 9). It is a comprehensive test that can identify mutations in the MMACHC, MMADHC, LMBRD1 or ABCD4 genes, which are responsible for this condition.
- Complementation Analysis: This test involves culturing patient fibroblasts and analyzing their ability to complement a deficiency in methylmalonyl-CoA mutase activity (5). It is a specific test that can confirm the diagnosis of methylmalonic aciduria and homocystinuria type CblF.
- Blood, Urine, or Skin Sample Tests: Special tests on blood, urine, or skin samples can be done to help confirm MMA+HCU (6). These tests may include measuring levels of methylmalonic acid, homocysteine, and other related compounds in the body.
References:
- [1] Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis. Hwang N, ...
- [5] Signs of methylmalonic acidemia with homocystinuria (Cbl C, D, F) could begin anywhere between the first few days of life and 14 years of age.
- [6] Diagnosis is confirmed by complementation analysis of cultured patient fibroblasts or by identification of mutations in the MMACHC, MMADHC, LMBRD1 or ABCD4 ...
- [9] This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 25 genes associated with methylmalonic aciduria.
Additional Diagnostic Tests
- Clinical Exome Sequencing
- Complementation Analysis
- Blood, Urine, or Skin Sample Tests
Treatment
Treatment Overview
Methylmalonic acidemia with homocystinuria (Cbl F) is a rare genetic disorder that requires prompt medical attention. The primary goal of treatment is to manage the symptoms, prevent complications, and improve quality of life.
Drug Treatment
The standard treatment for methylmalonic acidemia with homocystinuria type CblF involves:
- Hydroxocobalamin: This vitamin B12 analog is administered intramuscularly to help correct the metabolic disorder. It significantly improves methylmalonyl-CoA mutase activity [7].
- Betaine: Oral betaine supplementation can also be beneficial in managing the condition.
- Folic acid: Folic acid may be prescribed to support overall health and prevent any potential deficiencies.
Additional Therapies
In some cases, patients with methylmalonic acidemia with homocystinuria type CblF may receive additional therapies, including:
- Levo-carnitine (L-carnitine): This dietary supplement has been used to treat all patients with methylmalonic acidemia, as it appears to have a beneficial effect on the condition [10].
- Vitamin B12 injections: Hydroxocobalamin is often administered in the form of vitamin B12 injections to help alleviate symptoms.
Important Considerations
It's essential to consult with a healthcare professional for personalized medical advice and treatment. These treatments should not be initiated without consulting a qualified specialist [9].
References:
[7] Mar 15, 2019 — In patients with cobalamin-responsive methylmalonic acidemia (MMA), cobalamin therapy significantly improves methylmalonyl-CoA mutase activity. [10] Sep 19, 2022 — Levo-carnitine (L-carnitine) is a dietary supplement that is also used to treat all patients with methylmalonic acidemia, who apparently have a beneficial response.
Recommended Medications
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Differential Diagnosis
Methylmalonic aciduria and homocystinuria type cblF (MAHCF) is a rare disorder caused by mutations in the LMBRD1 gene. When considering differential diagnosis for MAHCF, several other conditions
Additional Differential Diagnoses
- Alpha-ketothiolase deficiency
- Beta-oxidation defects
- 3-methylcrotonyl-CoA carboxylase deficiency
- methylmalonic aciduria and homocystinuria type cblC
- glutaric acidemia type 3
- propionic acidemia
- isovaleric acidemia
Additional Information
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- A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13.
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