Related Experiment Video
Updated: Jul 29, 2026
12:17
The 4-vessel Sampling Approach to Integrative Studies of Human Placental Physiology In Vivo
Published on: August 2, 2017
Successful pregnancy in severe methylmalonic acidaemia
M P Wasserstein1, S Gaddipati, S E Snyderman
1Department of Human Genetics, Mount Sinai Medical Center, NY 10029, USA.
Journal of Inherited Metabolic Disease
|October 13, 1999
Summary
Methylmalonic acidaemia is a metabolic disorder. This case study shows a healthy birth in a patient with severe, late-onset complications, highlighting successful pregnancy management.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Methylmalonic acidaemia (MMA) is a rare inherited metabolic disorder.
- Characterized by recurrent ketoacidosis, MMA can lead to severe late-onset complications like renal failure and osteopenia.
- Vitamin B12-unresponsive MMA presents unique challenges in management.
Observation:
- A 20-year-old woman with vitamin B12-unresponsive MMA and significant late-onset complications, including chronic renal failure, pancreatitis, and osteopenia, was pregnant.
- During her first trimester, her plasma methylmalonic acid (MMA) levels were critically high at 1900 mumol/L.
- Despite the severe disease manifestations and high MMA levels, the pregnancy was managed intensively.
Findings:
- The patient successfully delivered a healthy baby.
- This outcome was achieved despite the mother's severe, late-onset MMA complications and extremely elevated MMA levels during pregnancy.
- Intensive management protocols were crucial for the successful pregnancy outcome.
Implications:
- This case demonstrates the feasibility of successful pregnancy in women with severe, late-onset methylmalonic acidaemia.
- It underscores the importance of intensive, multidisciplinary management for optimizing outcomes in pregnant patients with inherited metabolic disorders.
- Further research into managing high-risk pregnancies in metabolic diseases is warranted.
Related Concept Videos
01:30Vitamins
Vitamins, derived from the Latin word for life, are essential organic substances required in small quantities for optimal growth and overall well-being. Unlike other organic nutrients, vitamins don't act as sources of energy or building materials but rather facilitate these nutrients' utilization by the body. Vitamins are predominantly coenzymes, assisting enzymes in specific chemical actions, like the oxidation of glucose for energy involving B vitamins. Most vitamins are not produced in our...
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...