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)
| Excerpt | Relevance | Reference |
|---|---|---|
| "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." | 1.36 | Somatic 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." | 1.29 | Occipital 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) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 3 (75.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 1 (25.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Donsante, A | 1 |
| Johnson, P | 1 |
| Jansen, LA | 1 |
| Kaler, SG | 3 |
| Gallo, LK | 1 |
| Proud, VK | 1 |
| Percy, AK | 1 |
| Mark, Y | 1 |
| Segal, NA | 1 |
| Goldstein, DS | 2 |
| Holmes, CS | 2 |
| Gahl, WA | 2 |
| Buist, NR | 1 |
| Miller, RC | 1 |
| Hartmann, C | 1 |
| McIntire, WS | 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
| 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
| 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
| 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
| Intervention | Other - Months (Mean) |
|---|---|
| Early | 17.657 |
| Late | 3.364 |
| Mild | 17.667 |
(NCT00001262)
Timeframe: 36 months or death
| Intervention | Other - Percentile (Mean) |
|---|---|
| Early | 33.286 |
| Late | 11.136 |
| Mild | 18.333 |
(NCT00001262)
Timeframe: 36 months or death
| Intervention | Other - Percentile (Mean) |
|---|---|
| Early | 8.286 |
| Late | 15.455 |
| Mild | 28.333 |
(NCT00001262)
Timeframe: 36 months or death
| Intervention | Other - Percentile (Mean) |
|---|---|
| Early | 12.086 |
| Late | 11.273 |
| Mild | 5.000 |
4 other studies available for dihydroxyphenylalanine and Menkes Kinky Hair Syndrome
| Article | Year |
|---|---|
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.
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.
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.
Topics: Adenosine Triphosphatases; Amino Acid Sequence; Base Sequence; Ceruloplasmin; Copper; Dihydroxypheny | 1995 |
Amine-oxidizing quinoproteins.
Topics: Amino Acid Sequence; Coenzymes; Copper; Diabetes Mellitus; Dihydroxyphenylalanine; Electron Spin Res | 1997 |