Our understanding and management of atypical hemolytic uremic syndrome (aHUS) have
dramatically improved in the last decade. aHUS has been established as a prototypic …

Thrombotic microangiopathy (TMA) encompasses various genetically-driven diseases. The
emergence of ultrafast genomic sequencing has recently opened up new avenues of …

Newborn screening (NBS) for inborn errors of metabolism is one of the most advanced tools
for secondary prevention in medicine, as it allows early diagnosis and prompt treatment …

Nutritional deficiency and genetic errors that impair the transport, absorption, and utilization
of vitamin B 12 (B 12) lead to hematological and neurological manifestations. The cblC …

There is a clinical need for early detection of chronic kidney disease (CKD) in patients with
organic acidurias. We measured kidney markers in a longitudinal study over 5 years in 40 …

Hyperhomocysteinemia (HHcy) is recognized as an independent risk factor for various
significant medical conditions, yet controversy persists around its assessment and …

Methylmalonic aciduria and homocystinuria type C protein (MMACHC) is required by the
body to metabolize cobalamin (Cbl). Due to its complex structure and cofactor forms, Cbl …

Background cblC defect is the most common type of methylmalonic acidemia in China.
Patients with late-onset form (> 1 year) are often misdiagnosed due to heterogeneous …

Mutations in MMACHC cause cobalamin C disease (cblC, OMIM 277400), the commonest
inborn error of vitamin B 12 metabolism. In cblC, deficient activation of cobalamin results in …

Background: The most common disorder of the intracellular cobalamin metabolism pathway
is the combined methylmalonic acidemia and homocysteinemia, cblC type (cblC). There is a …