How Do You Spell FAMILIAL HYPERLYSINEMIA?

Pronunciation: [famˈɪlɪəl hˌa͡ɪpəlˌɪsa͡ɪnˈiːmi͡ə] (IPA)

Familial Hyperlysinemia is a rare genetic disorder that causes an excess of lysine in the body, leading to multiple symptoms such as developmental delay and intellectual disability. The phonetic transcription of this word is /fəˈmɪliəl haɪˌpɜr.laɪˌsinˈi.mi.ə/, which breaks down into individual sounds of each syllable. The prefix 'Familial' means relating to a family, while 'Hyperlysinemia' is a combination of hyper (excessive) + lysine (an amino acid) + emia (presence in the blood), reflecting the condition's biochemical aberration. Proper spelling of medical terms is critical for clinicians, researchers, and patients.

FAMILIAL HYPERLYSINEMIA Meaning and Definition

1. Familial Hyperlysinemia is a rare autosomal recessive genetic disorder characterized by an abnormal increase in the levels of lysine, a type of amino acid, in the body. This condition is caused by a deficiency in the enzyme lysine degradation protein, which is responsible for breaking down lysine. As a result, lysine accumulates in various tissues and fluids, leading to the signs and symptoms associated with Familial Hyperlysinemia.

   Individuals with Familial Hyperlysinemia may present with a range of symptoms, including intellectual disability, developmental delays, hypotonia (low muscle tone), seizures, and impairments in movement and coordination. Some affected individuals may also exhibit facial abnormalities, such as a wide and flat nasal bridge, wide-set eyes, and a small jaw.

   Diagnosis of Familial Hyperlysinemia can be confirmed through genetic testing, which identifies mutations in the gene responsible for encoding the deficient enzyme. Treatment primarily focuses on managing symptoms and limiting the intake of dietary lysine, as lysine-rich foods can exacerbate the condition. This is typically achieved through dietary restrictions and the supplementation of lysine-free or low-lysine formulas.

   While Familial Hyperlysinemia is a lifelong condition, individuals with this disorder can lead relatively normal lives with early intervention and appropriate management. A multidisciplinary approach involving healthcare professionals like geneticists, neurologists, and nutritionists is typically employed to ensure the best possible outcomes for affected individuals and their families.

Common Misspellings for FAMILIAL HYPERLYSINEMIA

• damilial hyperlysinemia
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• fam8lial hyperlysinemia
• famikial hyperlysinemia

Etymology of FAMILIAL HYPERLYSINEMIA

The word "Familial Hyperlysinemia" is a medical term that combines several elements:

1. Familial: It comes from the Latin word "familia", which means "family". In medical terminology, "familial" is used to indicate a condition or disease that tends to occur within a specific family or is inherited.

2. Hyper: It comes from the Greek word "hyper", which means "above" or "excessive". In medical terminology, "hyper" is used to describe a condition that involves excessive or elevated levels of a particular substance or activity.

3. Lysinemia: It comes from the term "lysine", which is an essential amino acid. The suffix "-emia" is derived from the Greek word "aima", meaning "blood". In medical terminology, "-emia" is used to denote a condition or presence of a substance in the blood.