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.
Valerio Carelli practices in Bologna, Italy. Mr. Carelli and is rated as an Elite expert by MediFind in the treatment of Optic Nerve Atrophy. His top areas of expertise are Optic Nerve Atrophy, Leber Hereditary Optic Neuropathy (LHON), Ganglion Cyst, Progressive External Ophthalmoplegia, and Liver Transplant.
Emory Medical Care Foundation Inc
Nancy Newman is an Ophthalmologist and a Neurologist in Atlanta, Georgia. Dr. Newman and is rated as an Elite provider by MediFind in the treatment of Optic Nerve Atrophy. Her top areas of expertise are Leber Hereditary Optic Neuropathy (LHON), Optic Nerve Atrophy, Pseudotumor Cerebri Syndrome, Increased Intracranial Pressure, and Embolectomy. Dr. Newman is currently accepting new patients.
Jules Stein Eye Institute Medical Group
Alfredo Sadun is an Ophthalmologist in Arcadia, California. Dr. Sadun and is rated as an Elite provider by MediFind in the treatment of Optic Nerve Atrophy. His top areas of expertise are Leber Hereditary Optic Neuropathy (LHON), Optic Nerve Atrophy, Papilledema, Vitrectomy, and Stent Placement.
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: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Summary: A First-in-Human multi-centre, prospective, Phase1a, Single Ascending Dose (SAD) interventional study of PYC-001 in participants with confirmed OPA1 mutation (haploinsufficiency) associated ADOA.
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.
Gallagher RC, Enns GM, Cowan TM, Mendelsohn B, Packman S. Aminoacidemias and organic acidemias. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology. 6th ed. Elsevier; 2017:chap 37.
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.