| Title |
Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase
|
|---|---|
| Published in |
Human Genetics, October 1987
|
| DOI | 10.1007/bf00272386 |
| Pubmed ID | |
| Authors |
C. R. Scriver, C. L. Clow, P. Kaplan, A. Niederwieser |
| Abstract |
We have identified deficient biopterin synthesis in four probands and one sib with persistent postnatal hyperphenylalaninemia. The metabolic findings were associated with a benign clinical presentation and normal biopterin level in cerebrospinal fluid in the newborn period, indicating the peripheral (hepatic) form of this autosomal recessive phenotype. Impaired development was apparent at 3 months in one proband not treated early. Treatment with oral tetrahydropterin restored adequate phenylalanine hydroxylase activity; it also maintained or improved CNS function. The deficient enzyme in these subjects is 6-pyruvoyl tetrahydropterin synthase (PTS). Erythrocyte activity of PTS in homozygotes (or compound heterozygotes) is less than 10% of normal. Heterozygotes have 20%-50% of normal PTS activity (enzyme phenotype), a finding compatible with a range of gene dosage effects, some abnormal. The metabolic phenotype in heterozygotes (urine biopterin excretion) did not correlate with erythrocyte PTS activity. The complex relationship between erythrocyte PTS activity, and biopterin synthesis in these families indicates genetic heterogeneity at the PTS locus. |
This research output has an Altmetric Attention Score of 6. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 12 June 2018.
All research outputs
#4,696,396
of 22,788,370 outputs
Outputs from Human Genetics
#467
of 2,953 outputs
Outputs of similar age
#1,459
of 12,129 outputs
Outputs of similar age from Human Genetics
#1
of 13 outputs
Altmetric has tracked 22,788,370 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,953 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.2. This one has done well, scoring higher than 76% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 12,129 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.
We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 76% of its contemporaries.