The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experience.

Many patients with inborn errors of metabolism, due to early diagnosis and improved management, are living longer with less disease burden. Several are now having families of their own. This poses challenges both for the metabolic control of the mother and potential secondary effects on the fetus, as well as the risk of inheriting the inborn error.

Renal variant of Fabry disease with sporadic GLA gene mutation: role of early renal biopsy.

Fabry disease (FD) is a rare, X-linked inherited disease of glycosphingolipid metabolism due to deficiency of lysosomal α-galactosidase A activity. Scarce activity of lysosomal α-galactosidase A results in progressive accumulation of globotriaosylceramide (Gb3) within lysosomes, believed to trigger a flow of cellular changes that lead to the clinical manifestation of the disease. We present a 23-year-old male with renal variant of FD who was born from non-affected parents, which, to the best of our knowledge, has not been reported in the literature so far.

New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.

Objective: To identify the mutations underlying a number of inborn errors of metabolism (IEM) disorders among United Arab Emirates (UAE) residents.

Methods: Molecular diagnostic and bioinformatics tools were used to identify the causative mutations of IEM disorders from multi-ethnic patients residing in UAE. The study was conducted in Al-Ain, UAE, between April 2009 and September 2010.

Effect of interpregnancy interval on risk of spontaneous preterm birth in Emirati women, United Arab Emirates.

Objective: To investigate whether a short interpregnancy interval is a risk factor for preterm birth in Emirati women, where there is a wide range of interpregnancy intervals and uniformity in potentially confounding factors.

Methods: A case-control design based on medical records was used. A case was defined as a healthy multiparous Emirati woman delivering a healthy singleton spontaneously before 37 weeks of gestation between 1997 and 2000, and a control was defined as the next eligible similar woman delivering after 37 weeks of gestation.

Cutaneous foreign bodies: elusive presentation. Case report and review of the literature.

Injuries by foreign bodies are a common problem in children, and sewing needles are not uncommonly found foreign bodies. Cutaneous foreign bodies are also occasionally seen, and these patients are referred to dermatologists because of skin findings resulting from body reactions. In this report we present an unusual case of a foreign body presenting as a linear skin eruption.