BCKD deficiency; Brain Disorders, Inborn Genetic; Branched-chain alpha-keto acid dehydrogenase deficiency; Branched-Chai... 


Maple syrup urine disease is an inherited disorder in which the body is unable to process certain amino acids (the building blocks of proteins) properly. From early infancy, the condition is characterized by poor feeding, vomiting, lack of energy (lethargy), seizures, and mental retardation. The urine of affected infants has a distinctive sweet odor, much like burned caramel, that gives the condition its name. Maple syrup urine disease can be life-threatening if left untreated. Maple syrup ur...

A birth defect is an abnormality of structure, function or metabolism (body chemistry) present at birth that results in physical or mental disability, or is fatal. Several thousand different birth defects have been identified. Birth defects are the leading cause of death in the first year of life.

Genetic Brain Disorders as related to Birth Defects

  • Genetic Disorders - ACOG
    What are genes? What are chromosomes? What determines my baby’s sex? What causes genetic disorders? What causes chromosome disorders? What is aneuploidy?

    GENETIC DISORDERS Ed Friedlander, M.D., Pathologist No texting or chat messages, please. Ordinary e-mails are welcome.

  • Congenital disorder - Wikipedia
    A congenital disorder, also known as a congenital disease, deformity, birth defect, or anomaly, is a condition existing at or before birth regardless of cause.

  • Birth Defects - Cleveland Clinic
    A birth defect is a significant abnormality of appearance, structure, or function that is present at birth. Birth defects are common. Two percent to three percent of ...

  • Birth Defects and Brain Development - body, last, causes ...
    Birth defects of the brain are a group of disorders that result from illness or injury to the brain and central nervous system of a developing fetus

  • List of Genetic Diseases and Disorders - Buzzle
    List of Genetic Diseases and Disorders. Genetic diseases and disorders are the result of anomalies in a gene or an entire part of the chromosome of an individual.

  • Screening Tests for Birth Defects - ACOG
    What is a birth defect? What causes birth defects? What are some examples of chromosome disorders? What are inherited disorders? What other things can cause birth ...

  • Genetic Disorders | Children's Hospital of Wisconsin
    Genetic disorders This page is intended to provide general information about genetic disorders and more specific information about a few genetic disorders that are ...

  • Birth Defects: Learn About the Causes - MedicineNet
    *Birth defects facts by John P. Cunha, DO, FACOE. Birth defects are structural or functional abnormalities present at birth that cause physical or mental disability.

  • Birth Defects: MedlinePlus
    A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy.