branched chain ketoaciduria

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Word: Branched Chain Ketoaciduria

Part of Speech: Noun

Definition: Branched chain ketoaciduria is a rare inherited disorder. It means that a person's body cannot properly break down certain proteins. This causes a buildup of specific acids in the body. One noticeable sign of this disorder is that the person's urine has a sweet smell, similar to maple syrup. If not treated, this condition can lead to serious health problems, including mental retardation and even death during early childhood.

Usage Instructions:

• Use "branched chain ketoaciduria" when discussing medical conditions, especially in conversations about genetic disorders or metabolic issues.
• It is often used in contexts related to health care, pediatrics, and genetic counseling.

Example Sentence:

"The doctor diagnosed the baby with branched chain ketoaciduria after noticing the sweet smell of her urine."

Advanced Usage:

In more technical discussions, you may encounter terms like "metabolic disorder," "amino acids," or "maple syrup urine disease," which is another name for branched chain ketoaciduria.

Word Variants:

• Branched-chain: This term refers to a type of amino acid that has a specific structure and is important for protein metabolism.
• Ketoacid: This is a type of organic acid that is involved in energy production in the body.

Different Meanings:

While "branched chain ketoaciduria" refers specifically to a medical condition, the terms "branched-chain" and "ketoacid" can be used in different contexts: - Branched-chain: In chemistry, this can refer to molecules that have a branched structure. - Ketoacid: In biochemistry, this refers to acids that contain a keto group.

Synonyms:

• Maple syrup urine disease (common synonym)
• BCKD deficiency (abbreviation for branched-chain ketoaciduria)

Idioms and Phrasal Verbs:

There are no specific idioms or phrasal verbs directly related to "branched chain ketoaciduria," as it is a specialized medical term. However, you can use general idioms related to health, such as: - "In the pink" (meaning in good health) - "Back on track" (returning to a healthy state after illness)

Summary:

Branched chain ketoaciduria is a serious inherited medical condition characterized by a sweet-smelling urine and potential severe health consequences if untreated.

Academic

Noun

1. an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood

Synonyms

• maple syrup urine disease