PDB 5I81

#RareDiseaseThursday Mutations in SMPD1 disrupt acid sphingomyelinase, leading to Niemann-Pick disease type A, a devastating lysosomal storage disorder. Lipids accumulate in cells, causing neurodegeneration, hepatosplenomegaly, and failure to thrive in infancy.

PDB 2NZ2

Today in our #RareDiseaseThursday spotlight: Argininosuccinate synthetase deficiency (ASSD), a urea cycle disorder caused by pathogenic variants in ASS1, impairing the conversion of citrulline+aspartate to argininosuccinate. This leads to long-term neurological damage.

PDB: 8GS8

Succinate dehydrogenase (SDH) uniquely powers both the TCA cycle & electron transport chain. SDH mutations cause SDH deficiency, disrupting energy metabolism & leading to developmental delays. #RareDiseaseThursday

KARS1 encodes lysyl-tRNA synthetase. Biallelic KARS mutations cause KARS syndrome, a severe disorder that affects multiple organs, particularly the nervous system. #RareDiseaseThursday

Transaldolase deficiency is a rare metabolic disorder affecting the pentose phosphate pathway, leading to liver dysfunction, growth delays, and skin abnormalities. It’s caused by mutations in the TALDO1 gene. Early diagnosis is key to managing symptoms. #RareDiseaseThursday

#RareDiseaseThursday Ribose-5-phosphate isomerase (RPI) deficiency is one of the rarest inborn errors of metabolism. Still no cure. It affects the pentose phosphate pathway, leading to impaired RNA synthesis or accumulation of D-ribitol and D-arabitol.

On #RareDiseaseThursday, learn about Ribose-phosphate isomerase deficiency: an ultra-rare autosomal recessive disorder causing leukoencephalopathy, developmental delays, and spinocerebellar atrophy. Fewer than 10 cases known; metabolic testing matters!

Fructose-1,6-bisphosphatase deficiency is a rare metabolic disorder characterized by impaired gluconeogenesis. Without this enzyme, the body can't maintain blood sugar, leading to hypoglycemia, lactic acidosis, and coma. #RareDiseaseThursday

#RareDiseaseThursday Mutations in glucose-6-phosphatase (G6Pase), an enzyme critical for glucose release, can lead to Von Gierke's Disease Type I. Dysfunctional G6Pase results in glycogen buildup in the liver and kidneys, leading to low blood sugar and organ damage

🖋️Hexosaminidase A deficiency leads to the devastating effects of Tay-Sachs disease, an autosomal recessive lysosomal storage disorder. Understanding this enzyme is key to advancing diagnosis and treatment options.🧠 #TaySachsDisease #RareDiseaseThursday

🧬 Meet SOD1, a crucial Cu/Zn metalloenzyme that protects cells from oxidative stress. Mutations in SOD1 are linked to a rare form of Amyotrophic Lateral Sclerosis, leading to motor neuron degeneration & paralysis. 🧠⚡ #RareDiseaseThursday #SOD1

🧬Meet TBCK, a key regulator in cell growth & metabolism. Mutations in TBCK cause TBCK Syndrome, a rare neurodevelopmental disorder linked to motor delays, hypotonia, & intellectual disability. Understanding TBCK helps uncover new therapeutic paths!🧠✨ #RareDiseaseThursday #TBCK

Our lab studies proteins and enzymes linked to rare diseases. Our mission is to create a brighter future for affected individuals and their families. To raise awareness, we’re launching #RareDiseaseThursday. #RareDisease