How Do You Spell LYSINE ALPHA KETOGLUTARATE REDUCTASE DEFICIENCY DISEASE?

Pronunciation: [lˈa͡ɪsa͡ɪn ˈalfə kˈɛtəɡlˌuːtɐɹˌe͡ɪt ɹɪdˈʌkte͡ɪs dɪfˈɪʃənsi dɪzˈiːz] (IPA)

Lysine Alpha Ketoglutarate Reductase Deficiency Disease, or LAKRDD, is a rare metabolic disorder that affects the synthesis of lysine. The spelling of this lengthy term can be explained using the International Phonetic Alphabet (IPA) phonetic transcription. "Lysine" is pronounced /ˈlaɪsiːn/, "Alpha Ketoglutarate" is pronounced /ˈælfə keɪtəˌɡluːtərət/, "Reductase" is pronounced /rɪˈdʌktəs/, and "Deficiency Disease" is pronounced /dɪˈfɪʃənsi dɪˈziːz/. LAKRDD is a rare condition that can cause developmental delays, intellectual disability, and seizures in affected individuals.

Meaning and Definition
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LYSINE ALPHA KETOGLUTARATE REDUCTASE DEFICIENCY DISEASE Meaning and Definition

  1. Lysine Alpha Ketoglutarate Reductase Deficiency Disease (LAKRDD) is a rare genetic disorder characterized by the lack or reduced activity of the enzyme lysine alpha ketoglutarate reductase. This enzyme plays a crucial role in the breakdown and metabolism of the amino acid lysine.

    Lysine is an essential amino acid that plays various roles in the body, including protein synthesis, collagen production, and energy metabolism. In individuals with LAKRDD, the deficiency or impairment of the lysine alpha ketoglutarate reductase enzyme leads to the accumulation of lysine and its by-products in the body.

    The buildup of lysine and its metabolites can result in a range of symptoms and complications. Some individuals may experience intellectual disability, developmental delay, and growth retardation. Other common manifestations of LAKRDD include facial dysmorphism, such as a small chin and a broad nasal bridge, as well as vision abnormalities and joint stiffness.

    The diagnosis of Lysine Alpha Ketoglutarate Reductase Deficiency Disease is typically made through genetic testing, which confirms the presence of mutations in the corresponding gene responsible for encoding the lysine alpha ketoglutarate reductase enzyme.

    Treatment for LAKRDD primarily focuses on managing and minimizing the symptoms and complications. This includes dietary modifications, such as a low-lysine diet, to normalize lysine levels in the body. Additionally, regular monitoring and supportive therapies may be provided to address specific symptoms and improve overall quality of life for individuals affected by LAKRDD.

Common Misspellings for LYSINE ALPHA KETOGLUTARATE REDUCTASE DEFICIENCY DISEASE

  • kysine alpha ketoglutarate reductase deficiency disease
  • pysine alpha ketoglutarate reductase deficiency disease
  • oysine alpha ketoglutarate reductase deficiency disease
  • ltsine alpha ketoglutarate reductase deficiency disease
  • lgsine alpha ketoglutarate reductase deficiency disease
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  • lyzine alpha ketoglutarate reductase deficiency disease
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  • lysjne alpha ketoglutarate reductase deficiency disease
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  • lysone alpha ketoglutarate reductase deficiency disease
  • lys9ne alpha ketoglutarate reductase deficiency disease