Tag: Autosomal recessive disorder

Transcobalamin II deficiency is a rare, life-threatening autosomal recessive disorder that typically manifests in early infancy. Recognizing the symptoms of transcobalamin II deficiency is crucial for prompt diagnosis and treatment, which can prevent severe, permanent complications, especially neurological damage.

According to the National Organization for Rare Disorders, Maple Syrup Urine Disease (MSUD) affects approximately 1 in 185,000 babies worldwide. Excess branched-chain amino acids in urine, which give it a distinct sweet odor, are a hallmark of this inherited metabolic disorder, caused by a genetic inability to properly break down leucine, isoleucine, and valine.

An estimated 1 in 30,000 individuals are affected by Hartnup disease, a rare metabolic disorder. This condition primarily affects the body's ability to absorb and utilize the amino acid tryptophan, which is a crucial precursor to niacin, explaining what vitamin is deficient in Hartnup disease.