Learn About Optic Nerve Atrophy
Methylmalonic acidemia is a condition 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 condition. This means the variant gene must be passed on to 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 damage 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, your child's 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 children. These transplants provide the body with new cells that help breakdown methylmalonic acid normally.
Emory Eye Center
Valerie Biousse is an Ophthalmologist and a Neurologist in Atlanta, Georgia. Dr. Biousse has been practicing medicine for over 37 years and is rated as an Elite provider by MediFind in the treatment of Optic Nerve Atrophy. Her top areas of expertise are Increased Intracranial Pressure, Pseudotumor Cerebri Syndrome, Papilledema, Optic Nerve Atrophy, and Embolectomy.
Valerio Carelli practices in Bologna, Italy. Mr. Carelli is rated as an Elite expert by MediFind in the treatment of Optic Nerve Atrophy. His top areas of expertise are Leber Hereditary Optic Neuropathy (LHON), Optic Nerve Atrophy, 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 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, Increased Intracranial Pressure, Pseudotumor Cerebri Syndrome, and Embolectomy. Dr. Newman is currently accepting new patients.
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.
Contact your child's 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 condition 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: This study aims to gather safety data and determine the optimal dosing regimen for PYC-001 in participants with confirmed OPA1 mutation-associated ADOA. Approximately 21 participants from across UK and Australia are expected to be enrolled, depending on safety review committee (SRC) throughout the course of the study. Participants may be assigned to any of the following: 1. A single 60ug dose of P...
Summary: This is a parallel arm non-randomized dose-escalation, open-label basket exploratory phase 1 clinical trial where Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes (MELAS) and Leber's hereditary optic neuropathy-Plus (LHON-Plus) participants will undergo simultaneous enrollment in two disease-based arms and receive daily oral doses of glycerol tributyrate to assess its safety and...
Published Date: April 06, 2025
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, et al. Defects in metabolism of amino acids. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 105.
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.