Amino acid homocysteine is converted to methionine (“remethylated”) – cobalamin is involved in some of these processes, folate metabolism also important.
Variety of presentations, at different ages:
- Neurological (central and peripheral)
- Feeding difficulties, apnoea in babies
- Subacute combined degeneration of spinal cord (peripheral neuropathy, ataxia, incontinence)
- Acute and/or chronic encephalopathy – hypotonia, regression
- Neuropsychiatric problems
- vascular problems (stroke/embolism)
- bone marrow (megaloblastic anaemia, cytopenia) – folate related
- Atypical HUS
- High homocysteine, usually
- Vitamin B12 and folate, for differential
- Methylmalonic acid (in urine)
- Methionine (usually goes low)
Start intramuscular B12 (hydroxocobalamin) as soon as samples collected, to prevent end organ damage.
Betaine should be started if high homocysteine with low methionine found, helps push conversion to methionine.
Autosomal recessive condition of high homocysteine in blood and urine, causing similar neurological problems, thrombosis, Marfanoid appearance, downward subluxing lenses.
Needs low methionine diet. Betaine supplements help.