Transaldolase deficiency, a recently discovered disorder of carbohydrate metabolism with
multisystem involvement, has been diagnosed in 6 patients. Affected patients have …

Elevated urinary excretion of 3‐methylglutaconic acid is considered rare in patients
suspected of a metabolic disorder. In 3‐methylglutaconyl‐CoA hydratase deficiency …

Background: Alagille syndrome (AS) is a rare multisystemic AD disease caused by an
alteration of NOTCH 2 pathway (prevalently due to JAG1 mutation). It causes chronic …

IMAJ• VOL 17• MArch 2015 ing destructive process with severe mitochondrial alterations,
prominent increase in peroxysomes, abnormal shape of the nuclei, and occasional …

Inborn errors of metabolism (IEM) are heterogeneous group of disorders that might present
in the clinics or emergency departments in different phenotypes, and one of these is a …

Editor, A 1½-years old female child born of non-consanguineous marriage presented to our
hospital for scaly lesions all over body, distension of the abdomen and recurrent watery …

Method Fast exom sequencing revealed a new heterozygote frame shift mutation of one
nucleotide (c. 1670del) in the thrombmodulin gene. This variant has not been described yet …

Objectives Salt wasting crisis is a life-threatening emergency that requires urgent
intervention. 1 In the neonatal period, the triad of electrolyte derangement (hyperkalemia …

The Dorfman–Chanarin syndrome is a rare, inherited disorder of lipid metabolism. Early in
life, the most prominent clinical feature is dryness and scaling of the skin (ichthyosis). This …

Background Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR)
syndrome is an autosomal dominant disorder. We report the first detailed case of …