Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder

D. Chitayat, S. Nakagawa, Robert W. Marion, G. S. Sachs, S. Y E Hahm, H. S. Goldman

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

We report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the 'cardinal' manifestations of AGU, including developmental disabilities, progressive 'coarsening' of the face, and early onset of hepatosplenomegaly. Biochemical studies showed elevated levels of urinary aspartylglucosamine and very low activity of aspartylglucosaminidase (AGA) in cultured fibroblasts. With long term follow-up, previously undescribed manifestations were noted, including radiographic evidence of spondylolysis and spondylolisthesis in early childhood and development of macro-orchidism during puberty. This family shows that AGU is not limited to individuals of Finnish background, but that the gene is panethnic in distribution and that additional changes, not previously noted, may present with advancing age.

Original languageEnglish (US)
Pages (from-to)527-532
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume31
Issue number3
StatePublished - 1988

Fingerprint

Aspartylglucosaminuria
Hispanic Americans
Aspartylglucosylaminase
Spondylolysis
Spondylolisthesis
Developmental Disabilities
Puberty
Fibroblasts
Genes

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Chitayat, D., Nakagawa, S., Marion, R. W., Sachs, G. S., Hahm, S. Y. E., & Goldman, H. S. (1988). Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder. American Journal of Medical Genetics, 31(3), 527-532.

Aspartylglucosaminuria in a Puerto Rican family : Additional features of a panethnic disorder. / Chitayat, D.; Nakagawa, S.; Marion, Robert W.; Sachs, G. S.; Hahm, S. Y E; Goldman, H. S.

In: American Journal of Medical Genetics, Vol. 31, No. 3, 1988, p. 527-532.

Research output: Contribution to journalArticle

Chitayat, D, Nakagawa, S, Marion, RW, Sachs, GS, Hahm, SYE & Goldman, HS 1988, 'Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder', American Journal of Medical Genetics, vol. 31, no. 3, pp. 527-532.
Chitayat, D. ; Nakagawa, S. ; Marion, Robert W. ; Sachs, G. S. ; Hahm, S. Y E ; Goldman, H. S. / Aspartylglucosaminuria in a Puerto Rican family : Additional features of a panethnic disorder. In: American Journal of Medical Genetics. 1988 ; Vol. 31, No. 3. pp. 527-532.
@article{53dca28e74bd46f0b98e7676f69311e6,
title = "Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder",
abstract = "We report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the 'cardinal' manifestations of AGU, including developmental disabilities, progressive 'coarsening' of the face, and early onset of hepatosplenomegaly. Biochemical studies showed elevated levels of urinary aspartylglucosamine and very low activity of aspartylglucosaminidase (AGA) in cultured fibroblasts. With long term follow-up, previously undescribed manifestations were noted, including radiographic evidence of spondylolysis and spondylolisthesis in early childhood and development of macro-orchidism during puberty. This family shows that AGU is not limited to individuals of Finnish background, but that the gene is panethnic in distribution and that additional changes, not previously noted, may present with advancing age.",
author = "D. Chitayat and S. Nakagawa and Marion, {Robert W.} and Sachs, {G. S.} and Hahm, {S. Y E} and Goldman, {H. S.}",
year = "1988",
language = "English (US)",
volume = "31",
pages = "527--532",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "3",

}

TY - JOUR

T1 - Aspartylglucosaminuria in a Puerto Rican family

T2 - Additional features of a panethnic disorder

AU - Chitayat, D.

AU - Nakagawa, S.

AU - Marion, Robert W.

AU - Sachs, G. S.

AU - Hahm, S. Y E

AU - Goldman, H. S.

PY - 1988

Y1 - 1988

N2 - We report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the 'cardinal' manifestations of AGU, including developmental disabilities, progressive 'coarsening' of the face, and early onset of hepatosplenomegaly. Biochemical studies showed elevated levels of urinary aspartylglucosamine and very low activity of aspartylglucosaminidase (AGA) in cultured fibroblasts. With long term follow-up, previously undescribed manifestations were noted, including radiographic evidence of spondylolysis and spondylolisthesis in early childhood and development of macro-orchidism during puberty. This family shows that AGU is not limited to individuals of Finnish background, but that the gene is panethnic in distribution and that additional changes, not previously noted, may present with advancing age.

AB - We report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the 'cardinal' manifestations of AGU, including developmental disabilities, progressive 'coarsening' of the face, and early onset of hepatosplenomegaly. Biochemical studies showed elevated levels of urinary aspartylglucosamine and very low activity of aspartylglucosaminidase (AGA) in cultured fibroblasts. With long term follow-up, previously undescribed manifestations were noted, including radiographic evidence of spondylolysis and spondylolisthesis in early childhood and development of macro-orchidism during puberty. This family shows that AGU is not limited to individuals of Finnish background, but that the gene is panethnic in distribution and that additional changes, not previously noted, may present with advancing age.

UR - http://www.scopus.com/inward/record.url?scp=0023716303&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023716303&partnerID=8YFLogxK

M3 - Article

C2 - 3228136

AN - SCOPUS:0023716303

VL - 31

SP - 527

EP - 532

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 3

ER -