Mild fumarase deficiency and a trial of low protein diet

V. E. Kimonis; J. Steller; I. Sahai; D. K. Grange; J. Shoemaker; B. M. Zelaya; R. Mandell; K. Shih; V. Shih

doi:10.1016/j.ymgme.2012.04.010

Mild fumarase deficiency and a trial of low protein diet

V. E. Kimonis
, J. Steller
, I. Sahai
, D. K. Grange
, J. Shoemaker
, B. M. Zelaya
, R. Mandell
, K. Shih
, V. Shih

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

5 Scopus citations

Abstract

We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has two novel mutations of the fumarase gene [c.521. C>G (p.P174R) and c.908. T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.

Original language	English
Pages (from-to)	241-242
Number of pages	2
Journal	Molecular genetics and metabolism
Volume	107
Issue number	1-2
DOIs	https://doi.org/10.1016/j.ymgme.2012.04.010
State	Published - Sep 2012

Keywords

Developmental delay
Fumarase
Fumarate hydratase
Fumaric aciduria
Hypotonia
Ventriculomegaly

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10.1016/j.ymgme.2012.04.010

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title = "Mild fumarase deficiency and a trial of low protein diet",

abstract = "We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has two novel mutations of the fumarase gene [c.521. C>G (p.P174R) and c.908. T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.",

keywords = "Developmental delay, Fumarase, Fumarate hydratase, Fumaric aciduria, Hypotonia, Ventriculomegaly",

author = "Kimonis, \{V. E.\} and J. Steller and I. Sahai and Grange, \{D. K.\} and J. Shoemaker and Zelaya, \{B. M.\} and R. Mandell and K. Shih and V. Shih",

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AU - Kimonis, V. E.

AU - Steller, J.

AU - Sahai, I.

AU - Grange, D. K.

AU - Shoemaker, J.

AU - Zelaya, B. M.

AU - Mandell, R.

AU - Shih, K.

AU - Shih, V.

PY - 2012/9

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N2 - We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has two novel mutations of the fumarase gene [c.521. C>G (p.P174R) and c.908. T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.

AB - We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has two novel mutations of the fumarase gene [c.521. C>G (p.P174R) and c.908. T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.

KW - Developmental delay

KW - Fumarase

KW - Fumarate hydratase

KW - Fumaric aciduria

KW - Hypotonia

KW - Ventriculomegaly

UR - https://www.scopus.com/pages/publications/84866171526

U2 - 10.1016/j.ymgme.2012.04.010

DO - 10.1016/j.ymgme.2012.04.010

M3 - Article

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AN - SCOPUS:84866171526

SN - 1096-7192

VL - 107

SP - 241

EP - 242

JO - Molecular genetics and metabolism

JF - Molecular genetics and metabolism

IS - 1-2

ER -

Mild fumarase deficiency and a trial of low protein diet

Abstract

Keywords

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