Entry - 308950 - LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT - OMIM

 
ICD+
308950

LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT


Clinical Synopsis
 

Neuro
- Mental retardation
- Choreoathetosis
- Spasticity
Misc
- Self-mutilation
Lab
- Hyperuricemia
- HGPRT and purine salvage normal
Inheritance
- X-linked
▲ Close

▼ TEXT

Nyhan et al. (1978) described a male patient with self-mutilation, mental retardation, choreoathetosis, spasticity and hyperuricemia, identical to the clinical picture of HGPRT deficiency (308000). Although HGPRT and purine salvage were normal, an abnormality in synthesis or catabolism of trinucleotides was suggested by an unusual accumulation of trinucleotides. Nyhan (1989) stated that since subsequent studies of cells from this patient failed to show consistent accumulation of trinucleotides, there is no real evidence of abnormality in purine metabolism. He reiterated that 'the phenotype was absolutely typical.'

▼ REFERENCES

  1. Nyhan, W. L. Personal Communication. San Diego, Calif. 10/13/1989.

  2. Nyhan, W. L., Nissinen, E., Bakay, B. Lesch-Nyhan phenocopy in a patient with normal purine salvage and abnormal nucleotide metabolism. (Abstract) Am. J. Hum. Genet. 30: 36A only, 1978.


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
warfield : 4/20/1994
mimadm : 2/27/1994
supermim : 3/17/1992
supermim : 3/20/1990
carol : 12/12/1989
ddp : 10/26/1989

308950

LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT


ORPHA: 510;  



TEXT

Nyhan et al. (1978) described a male patient with self-mutilation, mental retardation, choreoathetosis, spasticity and hyperuricemia, identical to the clinical picture of HGPRT deficiency (308000). Although HGPRT and purine salvage were normal, an abnormality in synthesis or catabolism of trinucleotides was suggested by an unusual accumulation of trinucleotides. Nyhan (1989) stated that since subsequent studies of cells from this patient failed to show consistent accumulation of trinucleotides, there is no real evidence of abnormality in purine metabolism. He reiterated that 'the phenotype was absolutely typical.'

REFERENCES

  1. Nyhan, W. L. Personal Communication. San Diego, Calif. 10/13/1989.

  2. Nyhan, W. L., Nissinen, E., Bakay, B. Lesch-Nyhan phenocopy in a patient with normal purine salvage and abnormal nucleotide metabolism. (Abstract) Am. J. Hum. Genet. 30: 36A only, 1978.


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
warfield : 4/20/1994
mimadm : 2/27/1994
supermim : 3/17/1992
supermim : 3/20/1990
carol : 12/12/1989
ddp : 10/26/1989



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.
Printed: March 14, 2025