choline and Metabolism, Inborn Errors studies

choline and Metabolism, Inborn Errors

Metabolism, Inborn Errors: Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.

Research Excerpts

Excerpt	Relevance	Reference
"Trimethylamine (TMA) is a volatile substance produced in the gut, absorbed into the blood and further metabolized by healthy individuals into trimethylamine-N-oxide (TMAO) by TMA-oxidase and then excreted in urine."	1.33	Diagnosis of suspected trimethylaminuria by NMR spectroscopy. ( Arêas, JA; Lanfer-Marquez, UM; Podadera, P; Sipahi, AM, 2005)

Research

Studies (23)

Timeframe	Studies, this research(%)	All Research%
pre-1990	8 (34.78)	18.7374
1990's	5 (21.74)	18.2507
2000's	6 (26.09)	29.6817
2010's	4 (17.39)	24.3611
2020's	0 (0.00)	2.80

Timeframe

Studies, this research(%)

All Research%

pre-1990

8 (34.78)

18.7374

1990's

5 (21.74)

18.2507

2000's

6 (26.09)

29.6817

2010's

4 (17.39)

24.3611

2020's

0 (0.00)

2.80

Authors

Authors	Studies
Wortmann, SB	1
Mayr, JA	1
Lever, M	1
McEntyre, CJ	1
George, PM	1
Chambers, ST	1
Guo, Y	1
Hwang, LD	1
Li, J	1
Eades, J	2
Yu, CW	1
Mansfield, C	1
Burdick-Will, A	1
Chang, X	1
Chen, Y	1
Duke, FF	1
Zhang, J	1
Fakharzadeh, S	1
Fennessey, P	1
Keating, BJ	1
Jiang, H	1
Hakonarson, H	1
Reed, DR	1
Preti, G	2
Wise, PM	1
Tjoa, S	1
Fennessey, PV	1
Pardini, RS	1
Sapien, RE	1
RUBINSTEIN, HM	1
DIETZ, AA	1
CZEBOTAR, V	1
Podadera, P	1
Sipahi, AM	1
Arêas, JA	1
Lanfer-Marquez, UM	1
Busby, MG	1
Fischer, L	1
da Costa, KA	1
Thompson, D	1
Mar, MH	1
Zeisel, SH	2
Chalmers, RA	2
Bain, MD	2
Michelakakis, H	2
Zschocke, J	1
Iles, RA	2
Buist, NR	1
Glenn, B	1
Vugrek, O	1
Wagner, C	1
Stabler, S	1
Allen, RH	1
Pogribny, I	1
Schulze, A	1
Barić, I	1
Mudd, SH	1
Ferrari, ND	1
Nield, LS	1
Spellacy, E	1
Watts, RW	1
Goolamali, SK	1
Ratnakumari, L	1
Qureshi, IA	1
Maysinger, D	1
Butterworth, RF	1
Chen, H	1
Aiello, F	1
Holmes, HC	1
Burns, SP	1
Kordoni, V	1
Rafter, JE	1
McConnell, HW	1
Mitchell, SC	1
Smith, RL	1
Brewster, M	1
Tănase, I	2
Mace, JW	1
Goodman, SI	1
Centerwall, WR	1
Chinnock, RF	1
Marks, R	1
Greaves, MW	1
Danks, D	1
Plummer, V	1
Pauszek, ME	1
Newberne, PM	1
Ahlstrom, A	1
Rogers, AE	1
Scott, EM	1
Weaver, DD	1
Wright, RC	1

Studies

Wortmann, SB

Mayr, JA

Lever, M

McEntyre, CJ

George, PM

Chambers, ST

Guo, Y

Hwang, LD

Li, J

Eades, J

Yu, CW

Mansfield, C

Burdick-Will, A

Chang, X

Chen, Y

Duke, FF

Zhang, J

Fakharzadeh, S

Fennessey, P

Keating, BJ

Jiang, H

Hakonarson, H

Reed, DR

Preti, G

Wise, PM

Tjoa, S

Fennessey, PV

Pardini, RS

Sapien, RE

RUBINSTEIN, HM

DIETZ, AA

CZEBOTAR, V

Podadera, P

Sipahi, AM

Arêas, JA

Lanfer-Marquez, UM

Busby, MG

Fischer, L

da Costa, KA

Thompson, D

Mar, MH

Zeisel, SH

Chalmers, RA

Bain, MD

Michelakakis, H

Zschocke, J

Iles, RA

Buist, NR

Glenn, B

Vugrek, O

Wagner, C

Stabler, S

Allen, RH

Pogribny, I

Schulze, A

Barić, I

Mudd, SH

Ferrari, ND

Nield, LS

Spellacy, E

Watts, RW

Goolamali, SK

Ratnakumari, L

Qureshi, IA

Maysinger, D

Butterworth, RF

Chen, H

Aiello, F

Holmes, HC

Burns, SP

Kordoni, V

Rafter, JE

McConnell, HW

Mitchell, SC

Smith, RL

Brewster, M

Tănase, I

Mace, JW

Goodman, SI

Centerwall, WR

Chinnock, RF

Marks, R

Greaves, MW

Danks, D

Plummer, V

Pauszek, ME

Newberne, PM

Ahlstrom, A

Rogers, AE

Scott, EM

Weaver, DD

Wright, RC

Reviews

2 reviews available for choline and Metabolism, Inborn Errors

Article	Year
Choline-related-inherited metabolic diseases-A mini review. Journal of inherited metabolic disease, 2019, Volume: 42, Issue:2 Topics: Animals; Choline; Choline Deficiency; Dietary Supplements; Disease Progression; Humans; Liver; Metab	2019
Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13). American journal of medical genetics, 1993, Feb-01, Volume: 45, Issue:3 Topics: Animals; Child; Choline; Chromosome Deletion; Chromosomes, Human, Pair 15; Diet; Female; Fishes; Hum	1993

Article

Year

Journal of inherited metabolic disease, 2019, Volume: 42, Issue:2

Topics: Animals; Choline; Choline Deficiency; Dietary Supplements; Disease Progression; Humans; Liver; Metab

2019

Trimethylaminuria in a girl with Prader-Willi syndrome and del(15)(q11q13).

American journal of medical genetics, 1993, Feb-01, Volume: 45, Issue:3

Topics: Animals; Child; Choline; Chromosome Deletion; Chromosomes, Human, Pair 15; Diet; Female; Fishes; Hum

1993

Trials

1 trial available for choline and Metabolism, Inborn Errors

Article	Year
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1 Topics: Adult; Case-Control Studies; Child; Child, Preschool; Choline; DNA Mutational Analysis; Female; Fish	2006

Article

Year

Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children.

Journal of inherited metabolic disease, 2006, Volume: 29, Issue:1

Topics: Adult; Case-Control Studies; Child; Child, Preschool; Choline; DNA Mutational Analysis; Female; Fish

2006

Other Studies

20 other studies available for choline and Metabolism, Inborn Errors

Article	Year
Is N,N-dimethylglycine N-oxide a choline and betaine metabolite? Biological chemistry, 2017, 06-27, Volume: 398, Issue:7 Topics: Adult; Betaine; Choline; Humans; Male; Metabolism, Inborn Errors; Methylamines; Sarcosine; Young Adu	2017
Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing. BMC medical genetics, 2017, Feb-15, Volume: 18, Issue:1 Topics: Adolescent; Adult; Aged; Choline; DNA; Female; Genetic Testing; Genotype; Humans; INDEL Mutation; Ma	2017
Individuals reporting idiopathic malodor production: demographics and incidence of trimethylaminuria. The American journal of medicine, 2011, Volume: 124, Issue:11 Topics: Adolescent; Adult; Aged; Aged, 80 and over; Black or African American; Child; Child, Preschool; Chol	2011
Trimethylaminuria (fish odor syndrome) related to the choline concentration of infant formula. Pediatric emergency care, 2003, Volume: 19, Issue:2 Topics: Choline; Halitosis; Humans; Infant; Infant Food; Male; Metabolism, Inborn Errors; Methylamines; Odor	2003
UNUSUAL URINARY COMPOUND IN PATIENTS HOMOZYGOUS FOR HEREDITARY ATYPICAL SERUM CHOLINESTERASE. Nature, 1964, May-16, Volume: 202 Topics: Acetylcholine; Choline; Cholinesterases; Chromatography; Clinical Enzyme Tests; Dibucaine; Fluoresce	1964
Diagnosis of suspected trimethylaminuria by NMR spectroscopy. Clinica chimica acta; international journal of clinical chemistry, 2005, Volume: 351, Issue:1-2 Topics: Adult; Amines; Animals; Choline; Diet; Dogfish; Humans; Magnetic Resonance Spectroscopy; Male; Metab	2005
Choline- and betaine-defined diets for use in clinical research and for the management of trimethylaminuria. Journal of the American Dietetic Association, 2004, Volume: 104, Issue:12 Topics: Betaine; Choline; Dietary Supplements; Dietetics; Dose-Response Relationship, Drug; Food Analysis; H	2004
S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man. Journal of inherited metabolic disease, 2006, Volume: 29, Issue:4 Topics: Adenosylhomocysteinase; Adult; Choline; DNA Methylation; Erythrocytes; Family Health; Humans; Magnet	2006
Smelling like dead fish: a case of trimethylaminuria in an adolescent. Clinical pediatrics, 2006, Volume: 45, Issue:9 Topics: Adolescent; Anti-Infective Agents; Biomarkers; Carnitine; Choline; Creatinine; Humans; Male; Metabol	2006
Trimethylaminuria. Journal of inherited metabolic disease, 1980, Volume: 2, Issue:4 Topics: Animals; Child; Choline; Creatinine; Diet; Female; Fishes; Humans; Meat; Metabolism, Inborn Errors;	1980
Developmental deficiency of the cholinergic system in congenitally hyperammonemic spf mice: effect of acetyl-L-carnitine. The Journal of pharmacology and experimental therapeutics, 1995, Volume: 274, Issue:1 Topics: Acetylcarnitine; Acetylcholinesterase; Ammonia; Animals; Brain; Carnitine; Choline; Choline O-Acetyl	1995
Choline and L-carnitine as precursors of trimethylamine. Biochemical Society transactions, 1997, Volume: 25, Issue:1 Topics: Animals; Carnitine; Child, Preschool; Choline; Female; Fishes; Humans; Magnetic Resonance Spectrosco	1997
Trimethylaminuria associated with seizures and behavioural disturbance: a case report. Seizure, 1997, Volume: 6, Issue:4 Topics: Adolescent; Child; Child Behavior Disorders; Choline; Diagnosis, Differential; Epilepsy, Complex Par	1997
[Aspects of the biochemistry of the urine in mental deficiency in children]. Physiologie (Bucarest), 1975, Volume: 12, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Choline; Humans; Infant;	1975
The child with an unusual odor. A clinical resumé. Clinical pediatrics, 1976, Volume: 15, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Choline; Diabetes Mellitus, Type 1; D	1976
Proceedings: Trimethylaminuria or fish odour syndrome in a child. The British journal of dermatology, 1976, Volume: 95 Suppl 14 Topics: Adolescent; Animals; Choline; Fishes; Humans; Metabolism, Inborn Errors; Methylamines; Odorants	1976
Fishing for a diagnosis. Indiana medicine : the journal of the Indiana State Medical Association, 1991, Volume: 84, Issue:2 Topics: Adolescent; Choline; Humans; Male; Metabolism, Inborn Errors; Methylamines; Odorants	1991
Effects of maternal dietary lipotropes on prenatal and neonatal rats. The Journal of nutrition, 1970, Volume: 100, Issue:9 Topics: Animal Nutritional Physiological Phenomena; Animals; Animals, Newborn; Choline; Female; Lipotropic A	1970
[Excretion of amino acids, keto acids, pentoses and choline in cerebral anomalies in children]. Revue roumaine de physiologie, 1972, Volume: 9, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Diseases; Child; Child, Preschool; C	1972
Discrimination of phenotypes in human serum cholinesterase deficiency. American journal of human genetics, 1970, Volume: 22, Issue:4 Topics: Acetylcholine; Adolescent; Adult; Age Factors; Alaska; Child; Choline; Cholinesterase Inhibitors; Ch	1970

Article

Year

Is N,N-dimethylglycine N-oxide a choline and betaine metabolite?

Biological chemistry, 2017, 06-27, Volume: 398, Issue:7

Topics: Adult; Betaine; Choline; Humans; Male; Metabolism, Inborn Errors; Methylamines; Sarcosine; Young Adu

2017

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.

BMC medical genetics, 2017, Feb-15, Volume: 18, Issue:1

Topics: Adolescent; Adult; Aged; Choline; DNA; Female; Genetic Testing; Genotype; Humans; INDEL Mutation; Ma

2017

Individuals reporting idiopathic malodor production: demographics and incidence of trimethylaminuria.

The American journal of medicine, 2011, Volume: 124, Issue:11

Topics: Adolescent; Adult; Aged; Aged, 80 and over; Black or African American; Child; Child, Preschool; Chol

2011

Trimethylaminuria (fish odor syndrome) related to the choline concentration of infant formula.

Pediatric emergency care, 2003, Volume: 19, Issue:2

Topics: Choline; Halitosis; Humans; Infant; Infant Food; Male; Metabolism, Inborn Errors; Methylamines; Odor

2003

UNUSUAL URINARY COMPOUND IN PATIENTS HOMOZYGOUS FOR HEREDITARY ATYPICAL SERUM CHOLINESTERASE.

Nature, 1964, May-16, Volume: 202

Topics: Acetylcholine; Choline; Cholinesterases; Chromatography; Clinical Enzyme Tests; Dibucaine; Fluoresce

1964

Diagnosis of suspected trimethylaminuria by NMR spectroscopy.

Clinica chimica acta; international journal of clinical chemistry, 2005, Volume: 351, Issue:1-2

Topics: Adult; Amines; Animals; Choline; Diet; Dogfish; Humans; Magnetic Resonance Spectroscopy; Male; Metab

2005

Choline- and betaine-defined diets for use in clinical research and for the management of trimethylaminuria.

Journal of the American Dietetic Association, 2004, Volume: 104, Issue:12

Topics: Betaine; Choline; Dietary Supplements; Dietetics; Dose-Response Relationship, Drug; Food Analysis; H

2004

S-adenosylhomocysteine hydrolase deficiency in a 26-year-old man.

Journal of inherited metabolic disease, 2006, Volume: 29, Issue:4

Topics: Adenosylhomocysteinase; Adult; Choline; DNA Methylation; Erythrocytes; Family Health; Humans; Magnet

2006

Smelling like dead fish: a case of trimethylaminuria in an adolescent.

Clinical pediatrics, 2006, Volume: 45, Issue:9

Topics: Adolescent; Anti-Infective Agents; Biomarkers; Carnitine; Choline; Creatinine; Humans; Male; Metabol

2006

Trimethylaminuria.

Journal of inherited metabolic disease, 1980, Volume: 2, Issue:4

Topics: Animals; Child; Choline; Creatinine; Diet; Female; Fishes; Humans; Meat; Metabolism, Inborn Errors;

1980

Developmental deficiency of the cholinergic system in congenitally hyperammonemic spf mice: effect of acetyl-L-carnitine.

The Journal of pharmacology and experimental therapeutics, 1995, Volume: 274, Issue:1

Topics: Acetylcarnitine; Acetylcholinesterase; Ammonia; Animals; Brain; Carnitine; Choline; Choline O-Acetyl

1995

Choline and L-carnitine as precursors of trimethylamine.

Biochemical Society transactions, 1997, Volume: 25, Issue:1

Topics: Animals; Carnitine; Child, Preschool; Choline; Female; Fishes; Humans; Magnetic Resonance Spectrosco

1997

Trimethylaminuria associated with seizures and behavioural disturbance: a case report.

Seizure, 1997, Volume: 6, Issue:4

Topics: Adolescent; Child; Child Behavior Disorders; Choline; Diagnosis, Differential; Epilepsy, Complex Par

1997

[Aspects of the biochemistry of the urine in mental deficiency in children].

Physiologie (Bucarest), 1975, Volume: 12, Issue:3

Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Child, Preschool; Choline; Humans; Infant;

1975

The child with an unusual odor. A clinical resumé.

Clinical pediatrics, 1976, Volume: 15, Issue:1

Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Choline; Diabetes Mellitus, Type 1; D

1976

Proceedings: Trimethylaminuria or fish odour syndrome in a child.

The British journal of dermatology, 1976, Volume: 95 Suppl 14

Topics: Adolescent; Animals; Choline; Fishes; Humans; Metabolism, Inborn Errors; Methylamines; Odorants

1976

Fishing for a diagnosis.

Indiana medicine : the journal of the Indiana State Medical Association, 1991, Volume: 84, Issue:2

Topics: Adolescent; Choline; Humans; Male; Metabolism, Inborn Errors; Methylamines; Odorants

1991

Effects of maternal dietary lipotropes on prenatal and neonatal rats.

The Journal of nutrition, 1970, Volume: 100, Issue:9

Topics: Animal Nutritional Physiological Phenomena; Animals; Animals, Newborn; Choline; Female; Lipotropic A

1970

[Excretion of amino acids, keto acids, pentoses and choline in cerebral anomalies in children].

Revue roumaine de physiologie, 1972, Volume: 9, Issue:6

Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Brain; Brain Diseases; Child; Child, Preschool; C

1972

Discrimination of phenotypes in human serum cholinesterase deficiency.

American journal of human genetics, 1970, Volume: 22, Issue:4

Topics: Acetylcholine; Adolescent; Adult; Age Factors; Alaska; Child; Choline; Cholinesterase Inhibitors; Ch

1970