What Is Cobalamin C Deficiency?

Maya Lin-Takahashi
Maya Lin-Takahashi
• • 7 min read

Cobalamin C Disease (Cblc), Also Known as Methylmalonic Aciduria with Homocystinuria Homocystinuria Homocystinuria or Hcu Is an Inherited Disorder of the...

What Is Cobalamin C Deficiency?

Cobalamin C disease (cblC), also known as methylmalonic aciduria with homocystinuria

homocystinuria
Homocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected.
› wiki › Homocystinuria
, is an inherited disease characterized by hypotonia, lethargy, intellectual and developmental disabilities, seizures, vision problems, and blood-related problems.

What is cobalamin C disease?

Background Combined methylmalonic aciduria and homocystinuria cobalamin C type (cobalamin C disease) is an inborn metabolic disorder consisting of an impaired intracellular synthesis of the 2 active forms of vitamin B12 (cobalamin), namely, adenosylcobalamin and methylcobalamin, that results in increased levels of ...

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What is cobalamin good for?

Vitamin B-12 (cobalamin) plays an essential role in red blood cell formation, cell metabolism, nerve function and the production of DNA, the molecules inside cells that carry genetic information. Food sources of vitamin B-12 include poultry, meat, fish and dairy products.

Maya Lin-Takahashi

Maya Lin-Takahashi

Consumer Tech & Gadget Reviewer
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Maya is a hardware enthusiast who tests and reviews smart home devices, smartphones, wearables, and audio gear. She focuses on practical consumer value and build quality.