methylcobalamin deficiency type cblG
Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.
Also known as: functional methionine synthase deficiency type cblG, methylcobalamin deficiency type cblG, HMAG, cblG, homocystinuria due to defect in methylation Cbl g, homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblG complementation type, homocystinuria-megaloblastic anemia, cblG complementation type, methylcobalamin deficiency Cbl G type.
Category: General
Symptoms associated with methylcobalamin deficiency type cblG
The following symptoms have been associated with methylcobalamin deficiency type cblG in medical literature. Not everyone experiences the same symptoms.
Blindness
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. ...
Diarrhea
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
Jaundice
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentra...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate methylcobalamin deficiency type cblG
Healthcare providers may order these tests when evaluating methylcobalamin deficiency type cblG. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with methylcobalamin deficiency type cblG, which is why a clinical evaluation is important.
African trypanosomiasis
African trypanosomiasis is a medical condition that may be associated with various symptoms and signs....
Marburg hemorrhagic fever
Marburg hemorrhagic fever is a medical condition that may be associated with various symptoms and signs....
PMM2-congenital disorder of glycosylation
The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunctio...
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
developmental delay, impaired speech, and behavioral abnormalities
developmental delay, impaired speech, and behavioral abnormalities is a medical condition that may be associat...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
Frequently Asked Questions
What is methylcobalamin deficiency type cblG?
methylcobalamin deficiency type cblG is a health condition described in medical literature. Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.
What are the symptoms of methylcobalamin deficiency type cblG?
methylcobalamin deficiency type cblG is associated with 7 symptoms in the medical literature we index, including Blindness, Diarrhea, Failure to thrive, Generalized-onset seizure, Jaundice, Seizure. Symptoms vary widely between individuals.
How is methylcobalamin deficiency type cblG diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with methylcobalamin deficiency type cblG include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have methylcobalamin deficiency type cblG, please discuss your symptoms with a qualified healthcare provider.