3,4-dihydroxyphenylacetic acid and Menkes Kinky Hair Syndrome studies

3,4-Dihydroxyphenylacetic Acid: A deaminated metabolite of LEVODOPA.
(3,4-dihydroxyphenyl)acetic acid : A dihydroxyphenylacetic acid having the two hydroxy substituents located at the 3- and 4-positions. It is a metabolite of dopamine.
dihydroxyphenylacetic acid : A dihydroxy monocarboxylic acid consisting of phenylacetic acid having two phenolic hydroxy substituents.

Menkes Kinky Hair Syndrome: An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)

Research Excerpts

Excerpt	Relevance	Reference
"In a well-established mouse model of Menkes disease, mottled-brindled (mo-br), we tested whether systemic administration of L-threo-dihydroxyphenylserine (L-DOPS), a drug used successfully to treat autosomal recessive norepinephrine deficiency, would improve brain neurochemical abnormalities and neuropathology."	1.39	L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model. ( Brinster, LR; Donsante, A; Goldstein, DS; Kaler, SG; Sullivan, P, 2013)
"Menkes disease is an X-linked recessive neurodevelopmental disorder resulting from mutation in a copper-transporting ATPase gene."	1.35	Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease. ( Goldstein, DS; Holmes, CS; Kaler, SG, 2009)
"Neonatal diagnosis of Menkes disease by plasma neurochemical measurements and early treatment with copper may improve clinical outcomes."	1.35	Neonatal diagnosis and treatment of Menkes disease. ( Donsante, A; Godwin, SC; Goldstein, DS; Holmes, CS; Kaler, SG; Liew, CJ; Patronas, N; Sato, S; Tang, J, 2008)

Research

Studies (3)

Authors

Clinical Trials (1)

Trial Overview

Trial Outcomes

Fine Motor Adaptive Development at 36 Mos of Age or at Death (Mos)

Timeframe	Studies, this research(%)	All Research%
pre-1990	0 (0.00)	18.7374
1990's	0 (0.00)	18.2507
2000's	2 (66.67)	29.6817
2010's	1 (33.33)	24.3611
2020's	0 (0.00)	2.80

Authors	Studies
Goldstein, DS	3
Holmes, CS	2
Kaler, SG	3
Donsante, A	2
Sullivan, P	1
Brinster, LR	1
Tang, J	1
Godwin, SC	1
Liew, CJ	1
Sato, S	1
Patronas, N	1

Trial	Phase	Enrollment	Study Type	Start Date	Status
Early Copper Histidine Therapy in Menkes Disease[NCT00001262]	Phase 1/Phase 2	60 participants (Actual)	Interventional	1990-06-30	Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate fine motor development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death

Gross Motor Development at 36 Mos of Age or at Death (Mos)

Intervention	Other - Months (Mean)
Early	16.200
Late	2.409
Mild	17.667

This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate gross motor development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death

Language Development at 36 Mos of Age or at Death (Mos)

Intervention	Other - months (Mean)
Early	13.743
Late	2.455
Mild	15.667

This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate language development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death

Personal-Social Development at 36 Mos of Age or at Death (Mos)

Intervention	Other - Months (Mean)
Early	15.800
Late	3.227
Mild	21.000

This was measured based on the Denver Developmental Screening Test (DDST) I or II for age-appropriate personal-social development in apparently normal healthy subjects at specific ages (in months). The DDST employs a grid to assess expected developmental milestones in relation to chronologic age. (NCT00001262)
Timeframe: 36 months or death

Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Head Circumference Percentile

Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Length Percentile

Somatic Growth Percentiles at 3 Years of Age (or at Age of Death) - Weight Percentile

Other Studies

3 other studies available for 3,4-dihydroxyphenylacetic acid and Menkes Kinky Hair Syndrome

Article	Year
Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of menkes disease. Neurochemical research, 2009, Volume: 34, Issue:8 Topics: 3,4-Dihydroxyphenylacetic Acid; Biomarkers; Catechols; Chromatography, High Pressure Liquid; Dopamin	2009
L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model. Annals of neurology, 2013, Volume: 73, Issue:2 Topics: 3,4-Dihydroxyphenylacetic Acid; Adenosine Triphosphatases; Animals; Antiparkinson Agents; Blood-Brai	2013
Neonatal diagnosis and treatment of Menkes disease. The New England journal of medicine, 2008, Feb-07, Volume: 358, Issue:6 Topics: 3,4-Dihydroxyphenylacetic Acid; Adenosine Triphosphatases; Biomarkers; Cation Transport Proteins; Co	2008