HVLI
MCID: HYP866
MIFTS: 25
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Hypervalinemia and Hyperleucine-Isoleucinemia (HVLI)
Categories:
Genetic diseases, Metabolic diseases
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MalaCards integrated aliases for Hypervalinemia and Hyperleucine-Isoleucinemia:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
based on one reported patient (last reviewed april 2020) response to pharmacologic dose of b6 (the cofactor for bcat2) HPO:31Classifications: |
OMIM® :
57
Hypervalinemia and hyperleucine-isoleucinemia (HVLI) is a branched-chain amino acid metabolic disorder characterized by highly elevated plasma valine and leucine concentrations. The patient presented in adulthood with headache and mild memory impairment, and had abnormal symmetric white matter signals on brain MRI (Wang et al., 2015). (618850) (Updated 05-Mar-2021)
MalaCards based summary : Hypervalinemia and Hyperleucine-Isoleucinemia, also known as hypervalinemia or hyperleucine-isoleucinemia, is related to hyperleucine-isoleucinemia and maple syrup urine disease. An important gene associated with Hypervalinemia and Hyperleucine-Isoleucinemia is BCAT2 (Branched Chain Amino Acid Transaminase 2), and among its related pathways/superpathways are Glucose / Energy Metabolism and Carbon metabolism. Related phenotypes are headache and brisk reflexes UniProtKB/Swiss-Prot : 73 Hypervalinemia and hyperleucine-isoleucinemia: An autosomal recessive metabolic disorder characterized by highly elevated plasma concentrations of valine and leucine. Affected individuals suffer from headache and mild memory impairment. |
Diseases related to Hypervalinemia and Hyperleucine-Isoleucinemia via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Hypervalinemia and Hyperleucine-Isoleucinemia:31 (show all 8)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618850 (Updated 05-Mar-2021) |
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Articles related to Hypervalinemia and Hyperleucine-Isoleucinemia:
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ClinVar genetic disease variations for Hypervalinemia and Hyperleucine-Isoleucinemia:6
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Search
GEO
for disease gene expression data for Hypervalinemia and Hyperleucine-Isoleucinemia.
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Pathways related to Hypervalinemia and Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:
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Biological processes related to Hypervalinemia and Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:
Molecular functions related to Hypervalinemia and Hyperleucine-Isoleucinemia according to GeneCards Suite gene sharing:
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