Page last updated: 2024-10-18

dihydroxyphenylalanine and Menkes Kinky Hair Syndrome

dihydroxyphenylalanine has been researched along with Menkes Kinky Hair Syndrome in 4 studies

Dihydroxyphenylalanine: A beta-hydroxylated derivative of phenylalanine. The D-form of dihydroxyphenylalanine has less physiologic activity than the L-form and is commonly used experimentally to determine whether the pharmacological effects of LEVODOPA are stereospecific.
dopa : A hydroxyphenylalanine carrying hydroxy substituents at positions 3 and 4 of the benzene ring.

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

ExcerptRelevanceReference
"In a 20-month-old Menkes disease patient evaluated before copper treatment, blood copper, and catecholamine concentrations were normal, whereas levels in cerebrospinal fluid were abnormal and consistent with his neurologically severe phenotype."1.36Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain. ( Donsante, A; Jansen, LA; Johnson, P; Kaler, SG, 2010)
"We have found mutations in the Menkes disease gene (MNK) which impair, but do not abolish, correct mRNA splicing in patients with less severe clinical phenotypes."1.29Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. ( Gahl, WA; Gallo, LK; Goldstein, DS; Holmes, CS; Kaler, SG; Mark, Y; Percy, AK; Proud, VK; Segal, NA, 1994)

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's3 (75.00)18.2507
2000's0 (0.00)29.6817
2010's1 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Donsante, A1
Johnson, P1
Jansen, LA1
Kaler, SG3
Gallo, LK1
Proud, VK1
Percy, AK1
Mark, Y1
Segal, NA1
Goldstein, DS2
Holmes, CS2
Gahl, WA2
Buist, NR1
Miller, RC1
Hartmann, C1
McIntire, WS1

Clinical Trials (1)

Trial Overview

TrialPhaseEnrollmentStudy TypeStart DateStatus
Early Copper Histidine Therapy in Menkes Disease[NCT00001262]Phase 1/Phase 260 participants (Actual)Interventional1990-06-30Completed
[information is prepared from clinicaltrials.gov, extracted Sep-2024]

Trial Outcomes

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

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

InterventionOther - Months (Mean)
Early16.200
Late2.409
Mild17.667

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

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

InterventionOther - months (Mean)
Early13.743
Late2.455
Mild15.667

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

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

InterventionOther - Months (Mean)
Early15.800
Late3.227
Mild21.000

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

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

InterventionOther - Months (Mean)
Early17.657
Late3.364
Mild17.667

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

(NCT00001262)
Timeframe: 36 months or death

InterventionOther - Percentile (Mean)
Early33.286
Late11.136
Mild18.333

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

(NCT00001262)
Timeframe: 36 months or death

InterventionOther - Percentile (Mean)
Early8.286
Late15.455
Mild28.333

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

(NCT00001262)
Timeframe: 36 months or death

InterventionOther - Percentile (Mean)
Early12.086
Late11.273
Mild5.000

Other Studies

4 other studies available for dihydroxyphenylalanine and Menkes Kinky Hair Syndrome

ArticleYear
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.
    American journal of medical genetics. Part A, 2010, Volume: 152A, Issue:10

    Topics: Adenosine Triphosphatases; Amino Acid Substitution; beta 2-Microglobulin; Biological Transport; Biop

2010
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
    Nature genetics, 1994, Volume: 8, Issue:2

    Topics: Adenosine Triphosphatases; Adolescent; Animals; Base Sequence; Carrier Proteins; Cation Transport Pr

1994
Early copper therapy in classic Menkes disease patients with a novel splicing mutation.
    Annals of neurology, 1995, Volume: 38, Issue:6

    Topics: Adenosine Triphosphatases; Amino Acid Sequence; Base Sequence; Ceruloplasmin; Copper; Dihydroxypheny

1995
Amine-oxidizing quinoproteins.
    Methods in enzymology, 1997, Volume: 280

    Topics: Amino Acid Sequence; Coenzymes; Copper; Diabetes Mellitus; Dihydroxyphenylalanine; Electron Spin Res

1997