Methylmalonic acidemia with homocystinuria
آخر تحديث 16 مايو 2023
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Methylmalonic acidemia with homocystinuria is a disorder in which the body is unable to correctly process certain protein building blocks (amino acids), fat building blocks (fatty acids), and cholesterol. The body is also unable to convert the amino acid homocysteine to another amino acid, methionine. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. There are several forms of this combined condition, and the different forms have different genetic causes and signs and symptoms. The most common and best understood form, called cblC type (or cobalamin C disease), occurs in about 80 percent of affected individuals.
الوصف
Methylmalonic acidemia with homocystinuria is a disorder in which the body is unable to correctly process certain protein building blocks (amino acids), fat building blocks (fatty acids), and cholesterol. The body is also unable to convert the amino acid homocysteine to another amino acid, methionine. Individuals with this disorder have a combination of features from two separate conditions, methylmalonic acidemia and homocystinuria. There are several forms of this combined condition, and the different forms have different genetic causes and signs and symptoms. The most common and best understood form, called cblC type (or cobalamin C disease), occurs in about 80 percent of affected individuals.
The signs and symptoms of methylmalonic acidemia with homocystinuria usually develop in infancy, although they can begin at any age. When the condition begins early in life, affected individuals typically grow more slowly than expected. This sign is sometimes iedentified before the baby is born. These infants can also have difficulty feeding and have an abnormally pale appearance (pallor). Eye abnormalities and neurological problems, including weak muscle tone (hypotonia) and seizures, are also common in people with methylmalonic acidemia with homocystinuria. Many infants and children with this condition have delayed development and intellectual disability, and some have an unusually small head size (microcephaly).
Some people with methylmalonic acidemia with homocystinuria develop a blood disorder called megaloblastic anaemia. Megaloblastic anaemia occurs when a person has a low number of red blood cells (anaemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of early-onset methylmalonic acidemia with homocystinuria worsen over time, and the condition can be life-threatening if it is not treated.
When methylmalonic acidemia with homocystinuria begins in adolescence or adulthood, it may change an affected person's behaviour and personality; the person may become less social and may experience hallucinations, delirium, and psychosis. In addition, these individuals can begin to lose previously acquired mental and physical abilities, resulting in a decline in school or work performance, difficulty controlling movements, memory problems, speech difficulties, a decline in intellectual function (dementia), or an extreme lack of energy (lethargy). Some people with methylmalonic acidemia with homocystinuria whose signs and symptoms begin later in life develop a condition called subacute combined degeneration of the spinal cord, which leads to numbness and weakness in the lower limbs, difficulty walking, and frequent falls.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked recessive; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Methylmalonic acidemia and homocystinemia
Methylmalonic acidemia and homocystinuria
Methylmalonic aciduria and homocystinuria
Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA mutase and homocysteine:methyltetrahydrofolate methyltransferase
Vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA mutase and methionine synthase activities
Related patient information and medicines
Patient information leaflet
اختبار بقعة الدم لحديثي الولادة
Mothers of all newborn babies are offered testing for certain rare but serious health conditions by testing blood taken from the baby's heel. This is the blood spot screening programme and it is also known as the heel prick test. Also, a sudden and severe drop in blood sugar levels can occur. All four devolved nations of the United Kingdom now.
Patient information leaflet
مرض الكلى السكري
مرض الكلى السكري هو a complication that occurs in some people with diabetes. It can progress to kidney failure in some cases. Treatment aims to prevent or delay the progression of the disease. Also, it aims to reduce the risk of developing cardiovascular diseases such as heart attack and stroke which are much more common than average in.
Patient information leaflet
ضخامة الكريات وفقر الدم الضخم الأرومات
Macrocytosis refers to red blood cells which are larger than normal. It does no... Tests of your liver function. Checks to rule out conditions which people with some types of macrocytic anaemia develop, such as diabetes, underactive thyroid gland, and homocystinuria (a condition in which a chemical called homocysteine and related substances build.
Patient information leaflet
السكري والمرض
إذا كان لديك السكري - or have to care for someone who has - it's important to be prepared to cope with illness. Don't delay in contacting your doctor or nurse if you need advice or support. If you're still not able to keep any fluids down get medical hel... There is also further information in the following sections on Type 1 diabetes and Type 2.
Patient information leaflet
الاعتلال العصبي السكري
الاعتلال العصبي السكري is a type of nerve damage that can occur if you have diabetes. Diabetic neuropathy is a common complication of both type 1 diabetes and type 2 diabetes. The best way to prevent or treat diabetic neuropathy is to keep your blood sugar (glucose) and blood pressure well controlled, to attend regular diabetes checks and to avoid.
Patient information leaflet
السكري وارتفاع ضغط الدم
It is important to keep your ضغط الدم under control if you have diabetes. Stroke, heart disease and other complications are more likely if your blood pressure is high. Tackling unhealthy factors in your lifestyle can help. Some people need medication if lifestyle changes aren't enough. Keeping your blood pressure well controlled is important.
قراءة إضافية ومراجع
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تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
16 مايو 2023 | أحدث إصدار
1 May 2023 | نُشر في الأصل
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