methylmalonic aciduria and homocystinuria type cblC

Methylmalonic aciduria and homocystinuria, cblC type is a rare genetic disorder that affects the body's ability to process vitamin B12 (cobalamin). This condition is characterized by the accumulation of toxic substances in the blood, leading to various health problems.

Key Features:

• Metabolic Disorder: Methylmalonic aciduria and homocystinuria, cblC type is a metabolic disorder that affects the body's ability to process protein called cobalamin.
• Vitamin B12 Metabolism: The condition is caused by an inborn error of vitamin B12 metabolism, leading to the accumulation of methylmalonic acid and homocysteine in the blood.
• Symptoms: Early signs include delayed growth, small head size, skin rash, vomiting, poor appetite, diarrhea, fever, and sleeping longer or more often.

Impact on Health:

• Megaloblastic Anemia: The condition can lead to megaloblastic anemia, a type of anemia characterized by the production of abnormally large red blood cells.
• Developmental Delay: Methylmalonic aciduria and homocystinuria, cblC type can cause developmental delay, intellectual disability, and failure to thrive in children.

References:

• [1] Combined methylmalonic acidemia and homocystinuria, cblC type (OMIM #277400) is an inborn error of intracellular cobalamin metabolism.
• [3] Methylmalonic aciduria and homocystinuria, cblC type is a metabolic disorder that affects the body's ability to process a protein called cobalamin.
• [7] Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism.

Note: The information provided is based on the search results and may not be an exhaustive list of symptoms or features.

Methylmalonic aciduria and homocystinuria, cblC type is a metabolic disorder that affects the body's ability to process certain protein building blocks. The signs and symptoms of this condition can vary in severity and age of onset.

Common Signs and Symptoms:

• Failure to thrive [1]
• Acute neurological deterioration [1]
• Intellectual deficit [1]
• Lethargy [1]
• Seizures [6]
• Microcephaly (small head size) [1]
• Pallor (abnormally pale appearance) [2]
• Eye abnormalities [2, 6]
• Weak muscle tone (hypotonia) [6]

Early Signs and Symptoms:

• Delayed growth [3]
• Small head size [3]
• Skin rash [3]
• Vomiting [3]
• Poor appetite [3]
• Diarrhea [3]
• Fever [3]
• Sleeping longer or more often [3]

Developmental Delays:

• Developmental delay is a common symptom in people with methylmalonic aciduria and homocystinuria, cblC type [7].

Age of Onset:

• The signs and symptoms of this condition can begin anywhere between the first few days of life and 14 years of age [5].

It's essential to note that not all individuals with methylmalonic aciduria and homocystinuria, cblC type will exhibit all of these signs and symptoms. If you suspect that you or a loved one may have this condition, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7

Methylmalonic aciduria and homocystinuria, cblC type (OMIM #277400) is a metabolic disorder that affects the body's ability to process a protein called cobalamin. Diagnostic tests for this condition include:

• Urine organic acids analysis: This test measures the levels of certain organic compounds in the urine, which can indicate the presence of methylmalonic acidemia with homocystinuria (Cbl C, D, F) [3].
• Serum MMA and tHcy measurement: Elevated levels of methylmalonic acid (MMA) and total homocysteine (tHcy) in the blood can confirm the diagnosis of cblC disease [3].
• Plasma amino acids analysis: This test measures the levels of certain amino acids in the blood, which can indicate the presence of methylmalonic acidemia with homocystinuria (Cbl C, D, F) [3].
• Acylcarnitine profiling: This test measures the levels of certain acylcarnitines in the blood or urine, which can indicate the presence of cblC disease [3].

Additionally, newborn screening for methylmalonic acidemia with homocystinuria is done using a small amount of blood collected from your baby's heel [6]. Antenatal diagnosis is also possible by measurement of methylmalonate and homocysteine in amniotic fluid and maternal urine at mid-trimester, as well as studies of cobalamin metabolism [7].

It's worth noting that the diagnosis of cblC disease is confirmed by identification of biallelic pathogenic variants in one of the following genes: MMAB, MMUT, or LMBRD1 [5].

Treatment Overview

Methylmalonic acidemia with homocystinuria (MMA+HCU) type cblC is a rare genetic disorder that affects the body's ability to process certain amino acids. The treatment for this condition involves managing symptoms and preventing complications.

• Hydroxocobalamin (OH-cbl): Vitamin B12 injections in the form of hydroxocobalamin have been shown to be beneficial in patients with cblC disease [8][9]. This treatment seems to lessen the symptoms in MMA+HCU patients.
• Parenteral OHCbl: Parenteral administration of OH-cbl (intravenous, subcutaneous, or intramuscular) is the only form of cobalamin proven to be beneficial in patients with cblC disease [2].
• Volume replacement and metabolic correction: Treatment also includes volume replacement with isotonic solutions containing high glucose to reverse catabolism, and correction of metabolic acidosis [3].

Important Considerations

It's essential to consult a healthcare professional for medical advice and treatment. The effectiveness of these dietary and supplement treatments is not yet certain due to the rarity of the condition [6]. Additionally, it's crucial to note that methylmalonic acidemia with homocystinuria (Cbl C, D, F) is a rare disorder, and more research is needed to fully understand its treatment.

References

[2] Parenteral OHCbl (IV, SQ or IM) is the only form of cobalamin proven to be beneficial in patients with cblC disease. [3] Treatment includes volume replacement with isotonic solutions containing high glucose to reverse catabolism, correction of metabolic acidosis. [6] Since methylmalonic acidemia with homocystinuria (Cbl C, D, F) is rare, it's not yet certain how effective these dietary and supplement treatments are. [8] The suggested therapeutic interventions in cblC disease include hydroxocobalamin (intramuscular, subcutaneous, or intravenous), whose purpose is to improve methylmalonyl-CoA mutase activity. [9] Babies and children with MMA+HCU may be given vitamin B12 injections in the form of hydroxocobalamin (OH-cbl).

Differential Diagnoses for Methylmalonic Aciduria and Homocystinuria Type CblC

Methylmalonic aciduria and homocystinuria type cblC is a rare genetic disorder that affects the body's ability to process certain protein building blocks (amino acids). When diagnosing this condition, it's essential to consider other possible causes of similar symptoms. Here are some differential diagnoses:

• Acquired vitamin B12 deficiency: This condition can also lead to elevated levels of methylmalonic acid and homocysteine in the blood, making it a potential differential diagnosis for methylmalonic aciduria and homocystinuria type cblC [5].
• Vitamin B12-responsive methylmalonic aciduria: Some individuals with this condition may have similar symptoms to those with methylmalonic aciduria and homocystinuria type cblC, including elevated levels of methylmalonic acid in the blood. However, their condition is responsive to vitamin B12 supplementation [5].
• Homocystinuria without methylmalonic aciduria: This condition can also present with elevated levels of homocysteine in the blood, but not necessarily with elevated levels of methylmalonic acid. It's essential to rule out this condition when diagnosing methylmalonic aciduria and homocystinuria type cblC [5].

References:

• [5] - Differential diagnoses include acquired vitamin B12 deficiency, vitamin B12-responsive methylmalonic aciduria, and homocystinuria without methylmalonic aciduria.
• [9] - Methylmalonic acidemias develop when enzymes that use vitamin B-12 to help digest certain proteins, fats, and cholesterol do not work properly.