Combined malonic and methylmalonic acidemia
Combined malonic and methylmalonic acidemia is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Combined malonic and methylmalonic acidemia
The following symptoms have been associated with Combined malonic and methylmalonic acidemia in medical literature. Not everyone experiences the same symptoms.
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Focal impaired awareness seizure
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset s...
Generalized clonic seizure
Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking...
Intermittent diarrhea
Repeated episodes of diarrhea separated by periods without diarrhea....
Memory impairment
An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and inc...
Migraine
Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated sympt...
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 Combined malonic and methylmalonic acidemia
Healthcare providers may order these tests when evaluating Combined malonic and methylmalonic acidemia. 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 Combined malonic and methylmalonic acidemia, which is why a clinical evaluation is important.
Idiopathic hypereosinophilic syndrome
Idiopathic hypereosinophilic syndrome is a medical condition that may be associated with various symptoms and ...
Landau-Kleffner syndrome
Landau-Kleffner syndrome is a medical condition that may be associated with various symptoms and signs....
MELAS
MELAS is a medical condition that may be associated with various symptoms and signs....
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
mitochondrial DNA depletion syndrome 13
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene....
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 Combined malonic and methylmalonic acidemia?
Combined malonic and methylmalonic acidemia is a health condition described in medical literature. Combined malonic and methylmalonic acidemia is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Combined malonic and methylmalonic acidemia?
Combined malonic and methylmalonic acidemia is associated with 8 symptoms in the medical literature we index, including Failure to thrive, Focal impaired awareness seizure, Generalized clonic seizure, Intermittent diarrhea, Memory impairment, Migraine. Symptoms vary widely between individuals.
How is Combined malonic and methylmalonic acidemia diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Combined malonic and methylmalonic acidemia 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 Combined malonic and methylmalonic acidemia, please discuss your symptoms with a qualified healthcare provider.