A rare case of mucopolysaccharidosis.
Mucopolysaccharidosis are a group of rare metabolic disorders of the lysosomal storage disease family caused by the absence or malfunctioning of lysosomal enzymes responsible for their breakdown. It encompasses disorders in which undegraded or partly degraded glycosaminoglycans accumulate in the lysosomes of many tissues owing to a deficiency of specific lysosomal enzymes. Here we report a case of a 7 years old child displaying the symptoms of Morquio's disease (Mucopolysaccharidosis type IV). Urine screening tests were performed which gave contrasting results.
Department of Biochemistry, Padmashree Dr. D. Y. Patil Medical College, Pimpri, Pune, India.
Ipsita
I
Choudhury
Department of Biochemistry, Padmashree Dr. D. Y. Patil Medical College, Pimpri, Pune, India.
Mona A
MA
Tilak
Department of Anesthesia, AFMC, Pune, India.
Arun Kumar
AK
Patra
Glycosaminoglycans; Lysosomal storage diseases; Mucopolysaccharidosis; Screening tests