mitochondrial DNA depletion syndrome 4a
A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
Also known as: AHD, AHS, Alper syndrome, Alper's disease, Alper's syndrome, Alpers Disease, Alpers Huttenlocher disease, Alpers Huttenlocher syndrome, Alpers disease, Alpers progressive infantile poliodystrophy.
Category: General
Symptoms associated with mitochondrial DNA depletion syndrome 4a
The following symptoms have been associated with mitochondrial DNA depletion syndrome 4a 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 myoclonic seizure
A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contract...
Hypoventilation
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (...
Jaundice
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentra...
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Visual loss
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term re...
Vomiting
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic...
Tests used to investigate mitochondrial DNA depletion syndrome 4a
Healthcare providers may order these tests when evaluating mitochondrial DNA depletion syndrome 4a. 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 mitochondrial DNA depletion syndrome 4a, which is why a clinical evaluation is important.
Listeriosis
Listeriosis 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....
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
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...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is mitochondrial DNA depletion syndrome 4a?
mitochondrial DNA depletion syndrome 4a is a health condition described in medical literature. A cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
What are the symptoms of mitochondrial DNA depletion syndrome 4a?
mitochondrial DNA depletion syndrome 4a is associated with 7 symptoms in the medical literature we index, including Failure to thrive, Focal myoclonic seizure, Hypoventilation, Jaundice, Status epilepticus, Visual loss. Symptoms vary widely between individuals.
How is mitochondrial DNA depletion syndrome 4a diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with mitochondrial DNA depletion syndrome 4a 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 mitochondrial DNA depletion syndrome 4a, please discuss your symptoms with a qualified healthcare provider.