Valinemia

Also Known As:

Hypervalinemia; Valine transaminase deficiency

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Valinemia: 9
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Valinemia: 9
Amino Acids, Peptides, and Proteins: 1
- Amino Acids: 30675
  - Branched-Chain Amino Acids: 2289
    - Valine: 1999
      - Valinemia: 9
  - Essential Amino Acids: 1152
    - Valine: 1999
      - Valinemia: 9

Related Diseases

1.	Inborn Genetic Diseases (Disease, Hereditary)
2.	Biotinidase Deficiency (Multiple Carboxylase Deficiency, Late Onset)
3.	Tyrosinemias (Tyrosinemia)
4.	Phenylketonurias (Phenylketonuria)
5.	Mucopolysaccharidoses

Experts

1.	Akar, Halil Tuna: 1 article (01/2021)
2.	Coşkun, Turgay: 1 article (01/2021)
3.	Gürbüz, Berrak Bilginer: 1 article (01/2021)
4.	Yoldaş, Tuba Çelen: 1 article (01/2021)
5.	Özmert, Elif Nursel: 1 article (01/2021)
6.	Chandra, Kousik: 1 article (10/2015)
7.	Ghosh, Soumita: 1 article (10/2015)
8.	Sengupta, Arjun: 1 article (10/2015)
9.	Jia, J P: 1 article (09/2015)
10.	Li, C J: 1 article (09/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Valinemia:

1.	Valine (L-Valine)FDA Link 10/25/1963 - "IDIOPATHIC HYPERVALINEMIA: PROBABLY A NEW ENTITY OF INBORN ERROR OF VALINE METABOLISM." 12/25/1965 - "Idiopathic hypervalinemia: valine and alpha keto-acids in blood following an oral dose of valine." 10/01/2015 - "In 'Hypervalinemia', valine is elevated in serum and urine, but not leucine and isoleucine. "
2.	Keto AcidsIBA 12/25/1965 - "Idiopathic hypervalinemia: valine and alpha keto-acids in blood following an oral dose of valine." 07/01/1992 - "Frequency of valinemia and leucinisoleucinemia is quite low but their significance is distinct because of our knowledge that at least two aminotransferases, one branched-chain keto acids dehydrogenase and two short-chain acyl-CoA dehydrogenases are present in human, is based on the observations of these limited cases. "
3.	Amino Acids FDA Link 11/02/1977 - "During routine screening of amino-acid disorders, we detected hypervalinemia in two sibs (a girl of 4 and a boy of 3 years of age) of a consanguineous marriage. " 04/01/2004 - "We reported amino acid disorders of rare occurrence such as dicarboxylic aminoaciduria, hydroxykynureninuria, persistent hypertyrosinemia, hydroxyprolinemia, hypervalinemia, etc. A new metabolic defect threoninemia was also detected. "
4.	Acyl-CoA DehydrogenasesIBA 07/01/1992 - "Frequency of valinemia and leucinisoleucinemia is quite low but their significance is distinct because of our knowledge that at least two aminotransferases, one branched-chain keto acids dehydrogenase and two short-chain acyl-CoA dehydrogenases are present in human, is based on the observations of these limited cases. "
5.	Proteins (Proteins, Gene)FDA Link 10/01/1977 - "Thus the hereditary diseases, hypervalinemia and hyperisoleucine-leucinemia, may be due to genetic alteration of the enzyme protein, resulting in change of its substrate specificity."
6.	Oxidoreductases (Dehydrogenase)IBA 07/01/1992 - "Frequency of valinemia and leucinisoleucinemia is quite low but their significance is distinct because of our knowledge that at least two aminotransferases, one branched-chain keto acids dehydrogenase and two short-chain acyl-CoA dehydrogenases are present in human, is based on the observations of these limited cases. "
7.	Leucine (L-Leucine)FDA Link 10/01/2015 - "In 'Hypervalinemia', valine is elevated in serum and urine, but not leucine and isoleucine. "
8.	Isoleucine (L-Isoleucine)FDA Link 10/01/2015 - "In 'Hypervalinemia', valine is elevated in serum and urine, but not leucine and isoleucine. "
9.	EnzymesIBA 10/01/1977 - "Thus the hereditary diseases, hypervalinemia and hyperisoleucine-leucinemia, may be due to genetic alteration of the enzyme protein, resulting in change of its substrate specificity."
10.	CreatineIBA 01/01/2021 - "Six cases with Phenylketonuria, 2 cases with partial Biotinidase Deficiency, 3 cases with Cerebral Creatine Deficiency Syndrome (CCDS), 5 cases with Mucopolysaccharidosis (MPS) Type-3b, 2 cases with MPS Type-3a, 1 case with MPS Type 4, 2 cases with Hypervalinemia and 1 case with Maple Syrup Urine Disease were all diagnosed as also having ASD. "