Gyrate atrophy of the choroid and retina with hyperornithinemia: Biochemical and histologic studies and response to vitamin B6

N. G. Kennaway, Richard Weleber, N. R M Buist

Research output: Contribution to journalArticle

39 Citations (Scopus)

Abstract

Four patients with hyperornithinemia and gyrate atrophy of the choroid and retina are described. In vivo response to vitamin B6 is documented in three of the four patients by significant reduction of fasting serum ornithine and increase of lysine after oral B6 supplementation. Oral glucose tolerance testing in one patient resulted in marked changes in serum ornithine and lysine concentrations, in addition to mild glucose intolerance. Histochemical staining of punch muscle biopsies showed intracellular inclusions in type 2 muscle fibers. Tubular aggregates, approximately 60 nm in diameter and adjacent to the sarcoplasmic membrane, were seen on electron microscopy. Obligate heterozygotes had a mean serum ornithine slightly higher than normal, but there was considerable overlap with the normal range. Oral ornithine tolerance tests distinguished carriers from controls in only one of five cases. Deficient activity of ornithine ketoacid aminotransferase (OKT) in cultured skin fibroblasts was documented in all four patients. Approximately half-normal levels were found in obligate heterozygotes. In vitro response to B6 was manifest by increased OKT activity at increased concentrations of pyridoxal phosphate in fibroblasts from the patients.

Original languageEnglish (US)
Pages (from-to)529-541
Number of pages13
JournalAmerican Journal of Human Genetics
Volume32
Issue number4
StatePublished - 1980

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Gyrate Atrophy
Vitamin B 6
Ornithine
Ornithine-Oxo-Acid Transaminase
Heterozygote
Lysine
Fibroblasts
Serum
Fast-Twitch Muscle Fibers
Pyridoxal Phosphate
Glucose Intolerance
Glucose Tolerance Test
Fasting
Electron Microscopy
Reference Values
Staining and Labeling
Biopsy
Muscles
Skin
Membranes

ASJC Scopus subject areas

  • Genetics

Cite this

Gyrate atrophy of the choroid and retina with hyperornithinemia : Biochemical and histologic studies and response to vitamin B6. / Kennaway, N. G.; Weleber, Richard; Buist, N. R M.

In: American Journal of Human Genetics, Vol. 32, No. 4, 1980, p. 529-541.

Research output: Contribution to journalArticle

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