Homocystinuria: management
Evidence-based neurology checklist on homocystinuria: management: Plasma investigations Homocysteine: this is high (hyperhomocysteinaemia, Hhcy) Methionine: this is high Cystathione: this is low Folate Methylmalonic acid Genetic mutation analysis Newborn screening Magnetic resonance imaging (MRI)…
Plasma investigations
- Homocysteine: this is high (hyperhomocysteinaemia, Hhcy)
- Methionine: this is high
- Cystathione: this is low
- Folate
- Methylmalonic acid
- Genetic mutation analysis
- Newborn screening
Magnetic resonance imaging (MRI) brain
Dietary treatment and supplementation
References
- Morris AA, Kožich V, Santra S, et al. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. J Inherit Metab Dis 2017; 40:49-74.
- Woods E, Dawson C, Senthil L, Geberhiwot T. Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient. BMJ Case Rep 2017; pii: bcr2016217477.
- Suri F, Narooie-Nejad M, Safari I, et al. Diagnosis of cystathionine beta-synthase deficiency by genetic analysis. J Neurol Sci 2014; 347:305-309.
- Okun JG, Gan-Schreier H, Ben-Omran T, et al. Newborn screening for vitamin b6 non-responsive classical homocystinuria: systematical evaluation of a two-tier strategy. JIMD Rep 2017; 32:87-94.
- Huemer M, Kožich V, Rinaldo P, et al. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. J Inherit Metab Dis 2015; 38:1007-1019.
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