Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene.

This is the first reported case of prosaposin ( ) mutation from India manifesting as an acute neuronal Gaucher disease-like condition. A 2-month-old male baby presented with encephalopathy, resistant tonic-clonic seizures, moderate hepatosplenomegaly, hypotonia, and cherry red spot in the retinae. The child had anemia, thrombocytopenia, elevated chitotriosidase, and normal activity of acid sphingomyelinase and low normal activity of β-glucosidase 1 (β-glucocerebrosidase 1, GBA).

Application of machine learning algorithms for the differential diagnosis of peroxisomal disorders.

We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis of peroxisomal disorders using the machine learning tools. The plasma samples of 131 controls and 90 cases were tested for VLCFA using gas chromatography-mass spectrometry following stable isotope dilution. These data were used to construct association rules and for recursive partitioning.

Utility of amniotic fluid chitotriosidase in the prenatal diagnosis of lysosomal storage disorders.

Objective: Plasma chitotriosidase is a documented biomarker for certain lysosomal storage disorders. However, its clinical utility for prenatal samples is not elucidated yet.

Methods: We have established Reference intervals for amniotic fluid chitotriosidase using control amniotic fluids (n = 47) and compared the activity with amniotic fluids affected by lysosomal storage disorders (n = 25).

Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy.

Background: Lysinuric protein intolerance is an inherited disorder of transport of cationic amino acids, causing amino aciduria.

Case Characteristics: A 3-year-old boy with 12 month history of episodic change in behavior (decreased sleep, poor interaction), stunted growth and hyperammonemia.

Outcome: Genetic analysis revealed a homozygous mutation, c.

The utility of two dimensional electrophoresis in diagnosis of mucopolysaccharidosis disorders.

Background: Mucopolysaccharidoses are a group of inherited lysosomal storage disorders consisting of 7 distinct clinical types and numerous subtypes. These are the result of deficiency of certain lysosomal degradative enzymes which are required to breakdown Glycosaminoglycans. The clinical features observed among Mucopolysaccharidoses subtypes show overlapping signs and symptoms with other lysosomal storage disorders and rheumatologic disorders.

Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India.

Plasma chitotriosidase originates from activated macrophages and is reported to be elevated in many Lysosomal Storage Disorders. Measurement of this enzyme activity has been an available tool for monitoring therapy of Gaucher disease. The degree of elevation of chitotriosidase is useful for differential diagnosis of Gaucher disease and Niemann Pick A/B.

The relative frequency of lysosomal storage disorders: a medical genetics referral laboratory's experience from India.

Lysosomal storage disorders are a group of rare, genetically inherited metabolic disorders. Because the literature on epidemiologic data is scanty from India, we attempted to determine their relative frequency and regional distribution. Our retrospective study included 1558 patients with clinical suspicion of various lysosomal storage disorders referred to Sandor Lifesciences Pvt Ltd during 2007 to 2012.