Diseases Studied

These conditions occur when the body cannot properly process vitamin B12, leading to elevated methylmalonic acid and homocysteine. Cobalamin disorders can affect the brain, eyes, blood cells, and other organs. Early treatment with vitamin B12–based therapies can help manage many symptoms, though long‑term monitoring is needed.

Glutaric acidemia type I affects the breakdown of lysine, hydroxylysine, and tryptophan. Babies with GA‑1 may appear well initially but are at risk for sudden neurologic injury during illness if untreated. Early diagnosis through newborn screening and strict dietary management greatly reduces the risk of long‑term movement disorders.

Isovaleric acidemia occurs when the body cannot break down the amino acid leucine. This can lead to the accumulation of isovaleric acid, which can cause a characteristic “sweaty feet” odor during illness. IVA may present with acute metabolic crises or milder, chronic symptoms. With dietary management and medications, many individuals lead healthy lives.

Methylmalonic acidemia is a group of inherited disorders that prevent the body from converting certain amino acids and fats into energy. As a result, harmful levels of methylmalonic acid accumulate. Symptoms may include metabolic crises, feeding problems, growth delays, kidney issues, and neurologic complications. MMA can be caused by enzyme deficiencies (like MUT) or problems with vitamin B12 metabolism (cobalamin disorders).

Propionic acidemia (PA) is a rare genetic metabolic disorder in which the body cannot properly break down certain parts of proteins and fats. This leads to a buildup of toxic substances in the blood, particularly propionic acid. PA can cause episodes of severe illness and long‑term complications affecting the heart, brain, growth, and metabolic stability. Early diagnosis and ongoing specialized care can significantly improve outcomes.