3-methylcrotonyl-CoA carboxylase 1 deficiency
Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.
Also known as: 3-Methylcrotonyl-Coa carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1, MCCC1 3-methylcrotonyl-CoA carboxylase deficiency, 3 Alpha methylcrotonylglycinuria 1, 3 Methylcrotonyl-CoA carboxylase 1 deficiency, 3 Methylcrotonyl-CoA carboxylase deficiency, 3 alpha methylcrotonylglycinuria 1, 3 methylcrotonylglycinuria, 3-MCC deficiency.
Category: General
Symptoms associated with 3-methylcrotonyl-CoA carboxylase 1 deficiency
The following symptoms have been associated with 3-methylcrotonyl-CoA carboxylase 1 deficiency in medical literature. Not everyone experiences the same symptoms.
Clonic seizure
A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly rep...
Dysphagia
Difficulty in swallowing....
Episodic vomiting
Paroxysmal, recurrent episodes of vomiting....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Fever
Body temperature elevated above the normal range....
Generalised tonic-clonic seizure without focal onset
A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characteri...
Hematuria
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic...
Insomnia
Persistent difficulty in starting or maintaining sleep, or waking up earlier than desired, despite having adeq...
Jaundice
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentra...
Neonatal seizure
A seizure occurring within the neonatal period (28 days beyond the full term date)....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tonic seizure
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevati...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate 3-methylcrotonyl-CoA carboxylase 1 deficiency
Healthcare providers may order these tests when evaluating 3-methylcrotonyl-CoA carboxylase 1 deficiency. 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 3-methylcrotonyl-CoA carboxylase 1 deficiency, which is why a clinical evaluation is important.
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Idiopathic hypereosinophilic syndrome
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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...
Wilson disease
Wilson disease is a medical condition that may be associated with various symptoms and signs....
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 3-methylcrotonyl-CoA carboxylase 1 deficiency?
3-methylcrotonyl-CoA carboxylase 1 deficiency is a health condition described in medical literature. Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.
What are the symptoms of 3-methylcrotonyl-CoA carboxylase 1 deficiency?
3-methylcrotonyl-CoA carboxylase 1 deficiency is associated with 13 symptoms in the medical literature we index, including Clonic seizure, Dysphagia, Episodic vomiting, Failure to thrive, Fever, Generalised tonic-clonic seizure without focal onset. Symptoms vary widely between individuals.
How is 3-methylcrotonyl-CoA carboxylase 1 deficiency diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with 3-methylcrotonyl-CoA carboxylase 1 deficiency 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 3-methylcrotonyl-CoA carboxylase 1 deficiency, please discuss your symptoms with a qualified healthcare provider.