Optic Nerve Atrophy Overview
Learn About Optic Nerve Atrophy
Methylmalonic acidemia is a disorder in which the body cannot break down certain proteins and fats. The result is a buildup of a substance called methylmalonic acid in the blood. This condition is passed down through families.
It is one of several conditions called an "inborn error of metabolism."
The disease is most often diagnosed in the first year of life. It is an autosomal recessive disorder. This means the defective gene must be passed onto the child from both parents.
A newborn with this rare condition may die before it is ever diagnosed. Methylmalonic acidemia affects boys and girls equally.
Babies may appear normal at birth, but develop symptoms once they start eating more protein, which can cause the condition to get worse. The disease can cause seizures and stroke.
Symptoms include:
- Brain disease that gets worse (progressive encephalopathy)
- Dehydration
- Developmental delays
- Failure to thrive
- Lethargy
- Seizures
- Vomiting
Treatment consists of cobalamin and carnitine supplements and a low-protein diet. The child's diet must be carefully controlled.
If supplements do not help, the health care provider may also recommend a diet that avoids substances called isoleucine, threonine, methionine, and valine.
Liver or kidney transplantation (or both) have been shown to help some patients. These transplants provide the body with new cells that help breakdown methylmalonic acid normally.
New York University
Scott Uretsky is a Neurologist in East Meadow, New York. Dr. Uretsky and is rated as a Distinguished provider by MediFind in the treatment of Optic Nerve Atrophy. His top areas of expertise are Leber Hereditary Optic Neuropathy (LHON), Optic Nerve Atrophy, Optic Neuritis, and Strabismus.
Richard Storm is an Ophthalmologist in Long Beach, New York. Dr. Storm and is rated as an Experienced provider by MediFind in the treatment of Optic Nerve Atrophy. His top areas of expertise are Coloboma of Optic Nerve, Coloboma of Optic Papilla, Discoid Lupus Erythematosus (DLE), and Cataract. Dr. Storm is currently accepting new patients.
Mark Melamed is an Ophthalmologist in Hewlett, New York. Dr. Melamed and is rated as an Advanced provider by MediFind in the treatment of Optic Nerve Atrophy. His top areas of expertise are Retinal Vasculopathy with Cerebral Leukodystrophy, Familial Exudative Vitreoretinopathy, Coats Disease, and Conjunctivitis (Pink Eye).
Babies may not survive their first episode of symptoms from this disease. Those who survive often have problems with the development of the nervous system, although normal cognitive development can occur.
Complications may include:
- Coma
- Death
- Kidney failure
- Pancreatitis
- Cardiomyopathy
- Recurrent infections
- Hypoglycemia
Seek medical help right away if your child is having a seizure for the first time.
See a provider if your child has signs of:
- Failure-to-thrive
- Developmental delays
A low-protein diet can help reduce the number of attacks. People with this condition should avoid those who are sick with contagious illnesses, such as colds and the flu.
Genetic counseling may be helpful for couples with a family history of this disorder who wish to have a baby.
Sometimes, expanded newborn screening is done at birth, including screening for methylmalonic acidemia. You can ask your provider if your child had this screening.
Summary: Dominant Optic Atrophy (hereafter known as DOA) is a neurodegenerative pathology of the optic nerve inducing progressive loss of central visual field and visual acuity. There is currently no proven treatment for this disease. The metabolomics work of Pascal Reynier's team revealed a specific metabolomic signature of DOA in the plasma of patients. This metabolomic signature revealed a relative defi...
Summary: The purpose of this study is to characterize the disease progression of confirmed OPA1 mutation-associated autosomal dominant optic atrophy (ADOA) by evaluating the changes in ocular structural and functional outcomes.
Published Date: April 28, 2023
Published By: Neil K. Kaneshiro, MD, MHA, Clinical Professor of Pediatrics, University of Washington School of Medicine, Seattle, WA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
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Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Defects in metabolism of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 103.
Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 1.