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

Ayrıntılar

Birincil Dil

Türkçe

Konular

-

Bölüm

-

Yazarlar

Hande Gülcan

Uğur Bıçak

Ayşehan Akıncı

Yayımlanma Tarihi

1 Eylül 2004

Gönderilme Tarihi

1 Eylül 2004

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2004 Cilt: 43 Sayı: 3

IZ

https://izlik.org/JA65MP55LL

Kaynak Göster

RIS / Bibtex

Vancouver

1.Hande Gülcan, Uğur Bıçak, Ayşehan Akıncı. KONJENİTAL HİPOTİROİDİNİN EŞLİK ETTİĞİ SİTRÜLLİNEMİ. ETD [Internet]. 01 Eylül 2004;43(3):197-9. Erişim adresi: https://izlik.org/JA65MP55LL

KONJENİTAL HİPOTİROİDİNİN EŞLİK ETTİĞİ SİTRÜLLİNEMİ

CITRULLINEMIA ASSOCIATED WITH CONGENITAL HYPOTHYROIDISM

Abstract

Keywords