Liver failure and neurologic disease in a patient with homocystinuria

Selma E. Snyderman

doi:10.1016/j.ymgme.2005.10.010

Liver failure and neurologic disease in a patient with homocystinuria

Selma E. Snyderman

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

Abstract

A homocystinuric patient with the typical clinical and metabolic features of the disorder started treatment at 22 years of age. A diet with controlled methionine intake resulted in good metabolic control for five years, but control could not be attained for the following 112 years. This was accompanied by the development of paraparesis and increasing liver failure. A liver transplantation was successful in achieving metabolic control without the need for any dietary restrictions.

Original language	English
Pages (from-to)	210-212
Number of pages	3
Journal	Molecular Genetics and Metabolism
Volume	87
Issue number	3 SPEC. ISS.
DOIs	https://doi.org/10.1016/j.ymgme.2005.10.010
State	Published - Mar 2006

Keywords

Homocystinuria
Liver failure
Liver transplantation
Metabolic control
Paraparesis

Access to Document

10.1016/j.ymgme.2005.10.010

Cite this

@article{a972e196968c4a6ba5b57f7b7fb069b0,

title = "Liver failure and neurologic disease in a patient with homocystinuria",

abstract = "A homocystinuric patient with the typical clinical and metabolic features of the disorder started treatment at 22 years of age. A diet with controlled methionine intake resulted in good metabolic control for five years, but control could not be attained for the following 112 years. This was accompanied by the development of paraparesis and increasing liver failure. A liver transplantation was successful in achieving metabolic control without the need for any dietary restrictions.",

keywords = "Homocystinuria, Liver failure, Liver transplantation, Metabolic control, Paraparesis",

author = "Snyderman, {Selma E.}",

year = "2006",

month = mar,

doi = "10.1016/j.ymgme.2005.10.010",

language = "English",

volume = "87",

pages = "210--212",

journal = "Molecular Genetics and Metabolism",

issn = "1096-7192",

publisher = "Academic Press Inc.",

number = "3 SPEC. ISS.",

}

TY - JOUR

T1 - Liver failure and neurologic disease in a patient with homocystinuria

AU - Snyderman, Selma E.

PY - 2006/3

Y1 - 2006/3

N2 - A homocystinuric patient with the typical clinical and metabolic features of the disorder started treatment at 22 years of age. A diet with controlled methionine intake resulted in good metabolic control for five years, but control could not be attained for the following 112 years. This was accompanied by the development of paraparesis and increasing liver failure. A liver transplantation was successful in achieving metabolic control without the need for any dietary restrictions.

AB - A homocystinuric patient with the typical clinical and metabolic features of the disorder started treatment at 22 years of age. A diet with controlled methionine intake resulted in good metabolic control for five years, but control could not be attained for the following 112 years. This was accompanied by the development of paraparesis and increasing liver failure. A liver transplantation was successful in achieving metabolic control without the need for any dietary restrictions.

KW - Homocystinuria

KW - Liver failure

KW - Liver transplantation

KW - Metabolic control

KW - Paraparesis

UR - http://www.scopus.com/inward/record.url?scp=33644650979&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2005.10.010

DO - 10.1016/j.ymgme.2005.10.010

M3 - Article

C2 - 16359898

AN - SCOPUS:33644650979

SN - 1096-7192

VL - 87

SP - 210

EP - 212

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

IS - 3 SPEC. ISS.

ER -

Liver failure and neurologic disease in a patient with homocystinuria

Abstract

Keywords

Access to Document

Fingerprint

Cite this