Successful treatment of severe carbamyl phosphate synthetase I deficiency

M van de Bor; P Mooy; D Van Zoeren; R Berger; HH van Gelderen; HL Teijema

doi:10.1136/adc.59.12.1183

Successful treatment of severe carbamyl phosphate synthetase I deficiency

M van de Bor
, P Mooy
, D Van Zoeren
, R Berger
, HH van Gelderen
, HL Teijema

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

11 Citations (Scopus)

Abstract

We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance. Growth and development are normal at 15 months of age.

Original language	English
Pages (from-to)	1183-1185
Number of pages	3
Journal	Archives of Disease in Childhood
Volume	59
Issue number	12
DOIs	https://doi.org/10.1136/adc.59.12.1183
Publication status	Published - 1984

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Successful treatment of severe carbamyl phosphate synthetase I
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title = "Successful treatment of severe carbamyl phosphate synthetase I deficiency",

abstract = "We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance. Growth and development are normal at 15 months of age.",

author = "\{van de Bor\}, M and P Mooy and \{Van Zoeren\}, D and R Berger and \{van Gelderen\}, HH and HL Teijema",

year = "1984",

doi = "10.1136/adc.59.12.1183",

language = "English",

volume = "59",

pages = "1183--1185",

journal = "Archives of Disease in Childhood",

issn = "0003-9888",

publisher = "BMJ Publishing Group",

number = "12",

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TY - JOUR

T1 - Successful treatment of severe carbamyl phosphate synthetase I deficiency

AU - van de Bor, M

AU - Mooy, P

AU - Van Zoeren, D

AU - Berger, R

AU - van Gelderen, HH

AU - Teijema, HL

PY - 1984

Y1 - 1984

N2 - We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance. Growth and development are normal at 15 months of age.

AB - We describe a girl with neonatal hyperammonaemia due to carbamyl phosphate synthetase I deficiency. Treatment consisted of protein restriction from the second day of life. Sodium benzoate was given for three weeks after birth and again from 7 months of age together with sodium phenylacetate to improve protein tolerance. Growth and development are normal at 15 months of age.

U2 - 10.1136/adc.59.12.1183

DO - 10.1136/adc.59.12.1183

M3 - Comment/Letter to the editor

C2 - 6524951

SN - 0003-9888

VL - 59

SP - 1183

EP - 1185

JO - Archives of Disease in Childhood

JF - Archives of Disease in Childhood

IS - 12

ER -

Successful treatment of severe carbamyl phosphate synthetase I deficiency

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