Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine
catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of …

This review discusses an approach to determining the cause of neonatal encephalopathy,
as well as current evidence on resuscitation and subsequent management of hypoxic …

Homocystinuria (HCU) due to cystathionine β-synthase (CBS) deficiency leads to severe
hyperhomocysteinemia (HHcy). Vascular events (VE) remain the major cause of morbidity …

An inborn error of metabolism, homocystinuria due to cystathionine β-synthase deficiency,
results in markedly elevated levels of circulating homocysteine. Premature vascular events …

Introduction Liver transplantation is recognised as a treatment option for patients with
propionic acidemia (PA) and those with methylmalonic acidemia (MMA) without renal …

Introduction: Untreated homocystinuria (HCU) leads to systemic and ocular complications
preventable by early treatment. Methods: This study describes the ocular features in HCU …

PURPOSE: To establish whether myopia in homocystinuria could be due to increased
ocular axial length. METHODS: Measurement of ocular axial length by A-scan ultrasound in …

Newborn screening enabling early diagnosis of medium chain acyl-CoA dehydrogenase
deficiency (MCADD) has dramatically improved health outcomes in children with MCADD …

N-carbamylglutamate (NCG) has been used in combination with ammonia scavengers
(sodium benzoate, sodium phenylbutyrate) and dialysis to treat hyperammonaemia in …

Homozygosity or compound heterozygosity for the c. 833T> C transition (p. I278 T) in the
cystathionine beta‐synthase (CBS) gene represents the most common cause of pyridoxine …