J Inherit Metab Dis. 1991;14(1):18-22.

beta-mannosidase deficiency in a female infant with epileptic encephalopathy.

Cooper A, Wraith JE, Savage WJ, Thornley M, Noronha MJ.

Source

Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Pendlebury, UK.

Abstract

We report a female infant with an isolated deficiency of beta-mannosidase activity. At nine months of age dysmorphism was absent except for brachecephaly. There was moderate developmental delay and a startle response to sound. At 12 months there was a sudden onset of tonic-clonic seizures which were unresponsive to drug therapy, requiring paralysis and mechanical ventilation for control. The child died suddenly aged 15 months. beta-mannosidase activity was markedly reduced in white cells and cultured skin fibroblasts whilst other lysosomal enzymes were normal. The disaccharide ManGlcNAc was excreted in urine but urinary mucopolysaccharides were normal.

PMID:: 1861456; [PubMed - indexed for MEDLINE]

LinkOut - more resources

Full Text Sources

EBSCO

Other Literature Sources

Labome Researcher Resource - ExactAntigen/Labome

Medical

Supplemental Content

Save items

Related citations in PubMed

Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine. [J Inherit Metab Dis. 1988]
Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine.
Cooper A, Hatton C, Thornley M, Sardharwalla IB. J Inherit Metab Dis. 1988; 11(1):17-29.
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. [J Inherit Metab Dis. 1990]
Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.
Kleijer WJ, Hu P, Thoomes R, Boer M, Huijmans JG, Blom W, Van Diggelen OP, Seemanova E, Macek M. J Inherit Metab Dis. 1990; 13(6):867-72.
Accumulation of mannosyl-beta(1----4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of beta-mannosidase. [Clin Chim Acta. 1990]
Accumulation of mannosyl-beta(1----4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of beta-mannosidase.
van Pelt J, Hokke CH, Dorland L, Duran M, Kamerling JP, Vliegenthart JF. Clin Chim Acta. 1990 Jan 31; 187(1):55-60.
Review Human beta-mannosidase deficiency associated with peripheral neuropathy. [Ann Neurol. 1994]
Review Human beta-mannosidase deficiency associated with peripheral neuropathy.
Levade T, Graber D, Flurin V, Delisle MB, Pieraggi MT, Testut MF, Carrière JP, Salvayre R. Ann Neurol. 1994 Jan; 35(1):116-9.
Review [Beta-D-mannosidase]. [Bull Acad Natl Med. 1995]
Review [Beta-D-mannosidase].
Percheron F. Bull Acad Natl Med. 1995 May; 179(5):881-91; discussion 892.

See reviews... See all...

Cited by 2 PubMed Central articles

A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant. [BMC Med Genet. 2009]
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
Sabourdy F, Labauge P, Stensland HM, Nieto M, Garcés VL, Renard D, Castelnovo G, de Champfleur N, Levade T. BMC Med Genet. 2009 Sep 3; 10:84. Epub 2009 Sep 3.
Bovine kidney beta-mannosidase: purification and characterization. [Biochem J. 1993]
Bovine kidney beta-mannosidase: purification and characterization.
Sopher BL, Traviss CE, Cavanagh KT, Jones MZ, Friderici KH. Biochem J. 1993 Jan 15; 289 ( Pt 2):343-7.

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Substance (MeSH Keyword)
PubChem chemical substance (submitted) records that are classified under the same Medical Subject Headings (MeSH) controlled vocabulary as the current articles.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
J Inherit Metab Dis. 1991 ;14(1):18-22.

PubMed
Cytoplasmic and nuclear distribution of the protein complexes mTORC1 and mTORC2:...
Cytoplasmic and nuclear distribution of the protein complexes mTORC1 and mTORC2: rapamycin triggers dephosphorylation and delocalization of the mTORC2 components rictor and sin1.
Hum Mol Genet. 2008 Oct 1 ;17(19):2934-48. Epub 2008 Jul 8 .

PubMed
Structural and functional analysis of the human HDAC4 catalytic domain reveals a...
Structural and functional analysis of the human HDAC4 catalytic domain reveals a regulatory structural zinc-binding domain.
J Biol Chem. 2008 Sep 26 ;283(39):26694-704. Epub 2008 Jul 8 .

PubMed
Routine care of peripheral intravenous catheters versus clinically indicated rep...
Routine care of peripheral intravenous catheters versus clinically indicated replacement: randomised controlled trial.
BMJ. 2008 Jul 8 ;337:a339. doi: 10.1136/bmj.a339.

PubMed
Genetic engineering in athletes.
Genetic engineering in athletes.
BMJ. 2008 Jul 7 ;337:a607. doi: 10.1136/bmj.a607.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

beta-mannosidase deficiency in a female infant with epileptic encephalopathy.

Source

Abstract

Publication Types, MeSH Terms, Substances

Publication Types

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 2 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information