Lysosomal storage diseases diagnosis

Wenger DA, Coppola S, Liu SL (2003) Insight in the diagnosis and treatment of lysosomal storage diseases. Arch Neurol 60 322-328... 

Alroy J, Ucci AA (2006) Skin biopsy a useful tool in the diagnosis of lysosomal storage diseases. 

Tay-Sachs disease is a fatal genetic disorder where harmful amounts of lipids called ganglioside accumulate in the nerve cells and brains of those affected. Infants with this disorder appear normal for the first several months of life, and then as the lipids distend the nerve cells and brain cells, progressive deterioration occurs the child becomes blind, deaf, and eventually unable to swallow. Tay-Sachs disease occurs mainly in Jewish children of Eastern European descent, and death from bronchopneumonia usually occurs by age 3 to 4 years. A reddish spot on the retina also develops, and symptoms first appear around 6 months of age. It is a lysosomal storage disorder with insufficient activity of the enzyme hexosaminidase A, which catalyzes the biodegradation of the gangliosides. The diagnosis is made by the clinical suspicion and serum hexosaminidase level. Currently there is no treatment available for this disease. 

Fig. 19.3. Diagnostic flow-chart for patients with coarse Hurler-like face. Coffin-Lowry syndrome (MIM 303300) Coffin-Siris syndrome (MIM 135900) frontometaphyseal dysplasia (MIM 305620) Sotos syndrome (MIM 117550) Williams syndrome (MIM 194050) multiple neuroma syndrome (MIM 171400) pachydermoperiostosis (MIM 167100) acromegaloid facial appearance syndrome (MIM 102150) Costello syndrome (MIM 218040) Patterson David syndrome (MIM 169170) Schinzel-Giedeon syndrome (MIM 269150) Fountain syndrome (MIM 229120) Pallister-Killian syndrome (MIM 601803) Simpson-Golabi-Behmel syndrome (MIM 312870) congenital hypothyroidism. Sialic acid storage disease, a lysosomal transport defect (Chap. 20) should also be considered in the differential diagnosis...

---