This chapter is a revision of the previous edition's chapter by Raymond Y. Wang, William R.
Wilcox, and Stephen D. Cederbaum, Chapter 92, Amino Acid Metabolism, pp 2564–2605© …

Dear Editor, A 27‑year‑old man born out of nonconsanguineous parentage [Figure 1:
Pedigree chart] with normal developmental history presented with history of insidious onset …

When people ascend to a high altitude (HA), the body's oxygen (O2) sensing mechanisms
can sense perturbation in partial pressure and trigger adaptive responses. Rapid ascending …

Inherited methylenetetrahydrofolate reductase (MTHFR) deficiency is associated with a wide
spectrum of disorders including homocystinuria. This study aims to describe the neurological …

Abstract Vitamin B12 (cobalamin, Cbl) is a cofactor for just two enzymes, while various forms
of folate are coenzymes for a wide range of enzymes. Metabolism of both vitamins involve …

In hydrogenotrophic methanogenesis, methenyl-tetrahydromethanopterin (methenyl
H4MPT+) is sequentially reduced to methylene-H4MPT and methyl H4MPT. The H2-forming …

Single-nucleotide polymorphisms are a type of genetic variation that may be utilized to
investigate illness vulnerability. Recurrent abortion is linked to hereditary thrombophilias …

Hyperhomocysteinemia is a common medical condition observed in patients with
aminoaciduria. Deficiency in cystathionine beta‑synthase, metabolism of cobalamin …

There are various adult-onset leukodystrophies described in the literature. A reversible form
of adult-onset leukodystrophy results from methylenetetrahydrofolate reductase (MTHFR) …

An 8-mo-old boy presented with developmental delay and tremors for 3 mo. The child was
on exclusive breast-feeding till 6 mo of age, and later weaned on ragi malt. The mother was …