Early diagnosis of Gitelman syndrome in a young child: A case report.

Background: Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterized by renal wasting hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is usually caused by mutations in the gene , which encodes the thiazide-sensitive Na-Cl cotransporter. GS is not usually diagnosed until late childhood or adulthood.

Noncardiac DiGeorge syndrome diagnosed with multiplex ligation-dependent probe amplification: A case report.

DiGeorge syndrome is not really a rare disease. A microdeletion of chromosome 22q11.2 is found in most patients.

Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.

Background: The clinical course of methylmalonic aciduria (MMA) is fulminant in neonates and emergency management is necessary to save lives. It is therefore very important to differentiate affected from unaffected neonates immediately when there are abnormal results regarding MMA in newborn screening.

Methods: Between January 2002 and December 2008, 598,522 newborns were screened for MMA by 2 neonatal screening centers: the Chinese Foundation of Health and the Taipei Institute of Pathology.

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.

In Taiwan, during the period March 2000 to June 2009, 1,495,132 neonates were screened for phenylketonuria (PKU) and homocystinuria (HCU), and 1,321,123 neonates were screened for maple syrup urine disease (MSUD), methylmalonic academia (MMA), medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) deficiency, isovaleric academia (IVA), and glutaric aciduria type 1 (GA-1) using tandem mass spectrometry (MS/MS). In a pilot study, 592,717 neonates were screened for citrullinemia, 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) and other fatty acid oxidation defects in the MS/MS newborn screening. A total of 170 newborns and four mothers were confirmed to have inborn errors of metabolism.

High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.

Background: Fabry disease is a treatable lysosomal storage disorder, which is often misdiagnosed or belatedly diagnosed.

Methods And Results: To determine the disease incidence in the Taiwan Chinese population, a Fabry disease newborn screening study was initiated. A total of 110 027 newborns were screened by assaying the alpha-galactosidase A (alpha-Gal A) activity using dry blood spots.

Six new mutations of the thyroglobulin gene discovered in taiwanese children presenting with thyroid dyshormonogenesis.

Background: Thyroglobulin (TG) defect is a rare cause of congenital hypothyroidism. Although only 44 mutations of the human TG gene have been identified, we have suspected a TG defect in 38% of Taiwan Chinese children/adolescents presenting with moderate or severe thyroidal dyshormonogenesis.

Study Objective: The aim of the study is to report the discovery of new TG gene mutations and associated clinical manifestations of the defective TG protein.

Growth hormone therapy in neonatal patients with methylmalonic acidemia.

Background: Information regarding growth hormone (GH) therapy in neonatal patients with methylmalonic academia (MMA) is lacking. We present our experience with GH therapy in neonatal patients with MMA.

Methods: Four neonatal patients with mut 0 type MMA were identified through newborn screening for elevated propionylcarnitine (C3) levels.

Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening.

A case of homocystinuria with lenticular subluxation was misdiagnosed as Marfan syndrome since the patient had no apparent mental impairment and had had a negative neonatal screen for homocystinuria. The delayed diagnosis of homocystinuria was due to a negative prior neonatal screen which was checked when he was a breastfed healthy newborn. In the absence of an autosomal dominant family history, and because of prior poor school performance, amino acid analysis and mutational analysis of the cystathionine beta-synthase gene were performed, which revealed the presence of homocystinuria.

Junctional epidermolysis bullosa.

Epidermolysis bullosa (EB) encompasses a heterogeneous group of genodermatoses, characterized by fragility and blistering of the skin, often associated with extracutaneous manifestations. The level of vesiculation within the skin defines 3 major subtypes of EB: EB simplex, junctional EB, and dystrophic EB. We present the case of a male neonate of 36 weeks of gestation, who was born with a few blisters with erosions and who rapidly developed extensive blistering of the skin.