KONJENİTAL HİPOTİROİDİNİN EŞLİK ETTİĞİ SİTRÜLLİNEMİ

Hande Gülcan; Uğur Bıçak; Ayşehan Akıncı

EN TR

CITRULLINEMIA ASSOCIATED WITH CONGENITAL HYPOTHYROIDISM

Abstract

Neonatal-onset of argininosuccinic acid synthetase deficiency (ASD; citrullinemia) is the most severe form of urea cycle disorders and presents a fatal course with vomiting, feeding difficulty, irritability, lethargy, hypotonia, apnea, convulsion, stupor and coma. The prognosis and quality of life of patients with citrullinemia might be improved with early diagnosis and appropriate theraphy. Congenital hypothyroidism is the causal effect of hypotonia in newborns, too. We report a male infant with neonatal citrullinemia and congenital hypothyroidism who was treated with specific therapeutic protocols designed to activate alternative pathways of waste nitrogen excretion. Congenetial hypothyroidism should be brought in mind in the differential diagnosis of hypotonia in neonates with inborn errors of metabolic diseases.

Keywords

citrullinemia, congenital hypothyroidism, neonate

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Hande Gülcan

Uğur Bıçak

Ayşehan Akıncı

Publication Date

September 1, 2004

Submission Date

September 1, 2004

Acceptance Date

-

Published in Issue

Year 2004 Volume: 43 Number: 3

IZ

https://izlik.org/JA65MP55LL

Cite

RIS / Bibtex

Vancouver

1.Hande Gülcan, Uğur Bıçak, Ayşehan Akıncı. KONJENİTAL HİPOTİROİDİNİN EŞLİK ETTİĞİ SİTRÜLLİNEMİ. EJM [Internet]. 2004 Sep. 1;43(3):197-9. Available from: https://izlik.org/JA65MP55LL

CITRULLINEMIA ASSOCIATED WITH CONGENITAL HYPOTHYROIDISM

CITRULLINEMIA ASSOCIATED WITH CONGENITAL HYPOTHYROIDISM

Abstract

Keywords