Type IV glycogen storage disease: Branching enzyme deficiency in skin fibroblasts and possible heterozygote detection

R. Howell, Michael M. Kaback, Barbara I. Brown

Research output: Contribution to journalArticle

31 Citations (Scopus)

Abstract

Fibroblasts have been developed from skin biopsies obtained from 3 children with type IV glycogen storage disease (amylopectinosis) and have been shown to be profoundly deficient in branching enzyme activity. Branching enzyme activity was reduced below control levels in both parents of one patient, supporting the previously suggested autosomal recessive inheritance. Fibroblasts cultured from normal amniotic fluid cells have branching activity similar to that of normal skin fibroblasts. Antenatal diagnosis of this uniformly fatal, untreatable disease should therefore be possible.

Original languageEnglish
Pages (from-to)638-642
Number of pages5
JournalThe Journal of pediatrics
Volume78
Issue number4
DOIs
StatePublished - Jan 1 1971
Externally publishedYes

Fingerprint

Glycogen Storage Disease Type IV
Heterozygote Detection
1,4-alpha-Glucan Branching Enzyme
Fibroblasts
Skin
Amniotic Fluid
Prenatal Diagnosis
Parents
Biopsy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Type IV glycogen storage disease : Branching enzyme deficiency in skin fibroblasts and possible heterozygote detection. / Howell, R.; Kaback, Michael M.; Brown, Barbara I.

In: The Journal of pediatrics, Vol. 78, No. 4, 01.01.1971, p. 638-642.

Research output: Contribution to journalArticle

@article{0d7ca0a93b1e422ab85e5bc7c26f5f07,
title = "Type IV glycogen storage disease: Branching enzyme deficiency in skin fibroblasts and possible heterozygote detection",
abstract = "Fibroblasts have been developed from skin biopsies obtained from 3 children with type IV glycogen storage disease (amylopectinosis) and have been shown to be profoundly deficient in branching enzyme activity. Branching enzyme activity was reduced below control levels in both parents of one patient, supporting the previously suggested autosomal recessive inheritance. Fibroblasts cultured from normal amniotic fluid cells have branching activity similar to that of normal skin fibroblasts. Antenatal diagnosis of this uniformly fatal, untreatable disease should therefore be possible.",
author = "R. Howell and Kaback, {Michael M.} and Brown, {Barbara I.}",
year = "1971",
month = "1",
day = "1",
doi = "10.1016/S0022-3476(71)80466-3",
language = "English",
volume = "78",
pages = "638--642",
journal = "Journal of Pediatrics",
issn = "0022-3476",
publisher = "Mosby Inc.",
number = "4",

}

TY - JOUR

T1 - Type IV glycogen storage disease

T2 - Branching enzyme deficiency in skin fibroblasts and possible heterozygote detection

AU - Howell, R.

AU - Kaback, Michael M.

AU - Brown, Barbara I.

PY - 1971/1/1

Y1 - 1971/1/1

N2 - Fibroblasts have been developed from skin biopsies obtained from 3 children with type IV glycogen storage disease (amylopectinosis) and have been shown to be profoundly deficient in branching enzyme activity. Branching enzyme activity was reduced below control levels in both parents of one patient, supporting the previously suggested autosomal recessive inheritance. Fibroblasts cultured from normal amniotic fluid cells have branching activity similar to that of normal skin fibroblasts. Antenatal diagnosis of this uniformly fatal, untreatable disease should therefore be possible.

AB - Fibroblasts have been developed from skin biopsies obtained from 3 children with type IV glycogen storage disease (amylopectinosis) and have been shown to be profoundly deficient in branching enzyme activity. Branching enzyme activity was reduced below control levels in both parents of one patient, supporting the previously suggested autosomal recessive inheritance. Fibroblasts cultured from normal amniotic fluid cells have branching activity similar to that of normal skin fibroblasts. Antenatal diagnosis of this uniformly fatal, untreatable disease should therefore be possible.

UR - http://www.scopus.com/inward/record.url?scp=0015042014&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0015042014&partnerID=8YFLogxK

U2 - 10.1016/S0022-3476(71)80466-3

DO - 10.1016/S0022-3476(71)80466-3

M3 - Article

C2 - 5278749

AN - SCOPUS:0015042014

VL - 78

SP - 638

EP - 642

JO - Journal of Pediatrics

JF - Journal of Pediatrics

SN - 0022-3476

IS - 4

ER -