methylmalonic acid and Amino Acid Transport Disorder, Neutral studies

methylmalonic acid and Amino Acid Transport Disorder, Neutral

Methylmalonic Acid: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
methylmalonic acid : A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.

Research Excerpts

Excerpt	Relevance	Reference
"Methylmalonic aciduria and Hartnup disorder are two rare autosomal recessively inherited metabolic disorders."	1.27	Occurrences of methylmalonic aciduria and Hartnup disorder in the same family. ( Coulombe, JT; Duran, M; Shih, VE; Wadman, SK; Waelkens, JJ, 1984)

Research

Studies (4)

Timeframe	Studies, this research(%)	All Research%
pre-1990	4 (100.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	0 (0.00)	29.6817
2010's	0 (0.00)	24.3611
2020's	0 (0.00)	2.80

Timeframe

Studies, this research(%)

All Research%

pre-1990

4 (100.00)

18.7374

1990's

0 (0.00)

18.2507

2000's

0 (0.00)

29.6817

2010's

0 (0.00)

24.3611

2020's

0 (0.00)

2.80

Authors

Authors	Studies
Shih, VE	1
Coulombe, JT	1
Wadman, SK	1
Duran, M	1
Waelkens, JJ	1
Snyderman, SE	1
Kroll, S	2
Zebisch, P	2
Toussaint, W	2

Studies

Shih, VE

Coulombe, JT

Wadman, SK

Duran, M

Waelkens, JJ

Snyderman, SE

Kroll, S

Zebisch, P

Toussaint, W

Reviews

1 review available for methylmalonic acid and Amino Acid Transport Disorder, Neutral

Article	Year
The dietary therapy of inherited metabolic disease. Progress in food & nutrition science, 1975, Volume: 1, Issue:7-8 Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C	1975

Article

Year

The dietary therapy of inherited metabolic disease.

Progress in food & nutrition science, 1975, Volume: 1, Issue:7-8

Topics: Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Carbohydrate Metabolism, Inborn Errors; Child; C

1975

Other Studies

3 other studies available for methylmalonic acid and Amino Acid Transport Disorder, Neutral

Article	Year
Occurrences of methylmalonic aciduria and Hartnup disorder in the same family. Clinical genetics, 1984, Volume: 26, Issue:3 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Female; Genes, Recessive; Genetic Linkage;	1984
[Hereditary amino acid metabolism disorders. Indications for early diagnosis]. Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11 Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine;	1972
[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods]. Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11 Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Labora	1972

Article

Year

Occurrences of methylmalonic aciduria and Hartnup disorder in the same family.

Clinical genetics, 1984, Volume: 26, Issue:3

Topics: Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Female; Genes, Recessive; Genetic Linkage;

1984

[Hereditary amino acid metabolism disorders. Indications for early diagnosis].

Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11

Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Cystathionine;

1972

[Diagnosis of inborn amino acid metabolism errors. Important symptoms and laboratory methods].

Fortschritte der Medizin, 1972, Apr-13, Volume: 90, Issue:11

Topics: Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Amino Acids; Arginine; Clinical Labora

1972