how to cite this article: eslamiyeh h, ashrafzadeh f, akhondian j, beiraghi toosi m. homocystinuria: a rare disorder presenting as cerebral sinovenous thrombosis. iran j child neurol. spring 2015;9(2):53-57. abstract objective homocystinuria is an inborn error of amino acid metabolism caused by cystathionine beta-synthase deficiency that affects methionine metabolism. the clinical features are ...

Neonatal seizures are common, and often comprise the first clinical indicator of central nervous system dysfunction. Although most neonatal seizures are secondary to processes such as hypoxic-ischemic injury, infection, or cortical malformations (which are readily identifiable through routine testing and imaging), seizures secondary to inborn errors of metabolism can be much more difficult to d...

Two cases of hyperammonemia with elevated citrulline are reported, one resulting from a deficiency of pyruvate carboxylase and the other from a partial deficiency of argininosuccinate synthetase. Diagnosis was based on clinical, biochemical and amino acid profiles. The utility of amino acid determinations in hyperammonemia suspected to underlie an inborn error of metabolism is emphasized.

Introduction: Young onset psychosis has poor prognosis, and inborn errors of metabolism (IEM) can be easily missed. There is scarce information regarding IEM young in Malaysia. Case Report: A 15-year-old Malay girl presented at the age 8 years with a history intellectual disability neuro-regression, subsequently developing psychotic obsessive-compulsive symptoms several later. Organic workup re...

Alkaptonuria is a rare inborn error of metabolism with autosomal recessive inheritance with a mutation in homogentisate 1,2-dioxygenase. It results in accumulation of homogentisic acid in connective tissues (ochronosis). Most common ocular manifestations are bluish-black discoloration of the conjunctiva, cornea, and sclera. In this case report, a 39-year-old Indian male patient with additional ...