Yang, Kong, Liu et al. report that homocysteine, an intermediate in methionine-cysteine #metabolism and the cause of the life-threatening disease #homocystinuria, disrupts lysosomal functions by binding to and homocysteinylating V-ATPase. rupress.org/jcb/article/...

#lysosomes

In @jcb.org, Yang, Kong, Liu et al. report that homocysteine, an intermediate in methionine-cysteine #metabolism and the cause of the life-threatening disease #homocystinuria, disrupts lysosomal functions by binding to and homocysteinylating V-ATPase. rupress.org/jcb/article/...

#lysosomes

Homocystinuria and childhood apraxia of speech. Homocystinuria is a rare metabolic disorder caused by a deficiency of cystathionine beta-synthase, leading to elevated homocysteine levels. This condition primarily affects connective tissue, the vasc...

Did you know Homocystinuria can impact speech? Neurological and motor challenges may contribute to childhood apraxia of speech, making early SLT and metabolic support crucial. #Homocystinuria #SpeechApraxia #CAS #RareDisease #SLT #ChildDevelopment

speechapraxia.co.uk/about-sauk/f...

Don’t miss this FREE webinar on 7/15 at 2PM ET: “How a Biochemical Genetics Lab Interfaces with Positive #NewbornScreening Tests” Case focus: #Homocystinuria & #Duchenne Muscular Dystrophy. Info & register: bit.ly/4eJMsDJ

Dr Andrew Morris joins the podcast to talk treatment and management in Classic homocystinuria

Listen on Spotify: podcasts.apple.com/gb/podcast/j...

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Or wherever you get your podcasts.

#Homocystinuria #cbsdeficiency #podcast

I cannot recall sharing any papers reflecting experience with IMD in Sri Lanka so this paper is something of a first:

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria

Hewa Warawitage Dilanthi, et al
doi.org/10.1002/jmd2...

#homocystinuria #HCU #CBSdeficiency

New in #JIMDReports, a report from Saudi Arabia looking at the impact of newborn screening on outcomes in classic #homocystinuria

doi.org/10.1002/jmd2...