Abstract
Homocysteine is a non-essential, sulphur-containing amino acid synthesized in human body from the essential, diet-derived amino acid methionine. An increased concentration of homocysteine can be observed in several genetically conditioned and acquired diseases. Anaemia is a common diagnosis in the hands of a general paediatrician. There is a predominant occurrence of microcytic anaemia due to iron deficiency. Macrocytic anaemia is a less common type, which requires a broad differential diagnosis. We present a boy with delayed speech development, attention deficit hyperactivity disorder and mild mental retardation who was diagnosed with macrocytic anaemia at the age of 11 with normal value of vitamin B12 and folic acid in serum. One-year folic acid treatment was ineffective. Due to collapse and progressive anaemia the boy was admitted to a hospital for further evaluation. The high concentration of plasma total homocysteine – 173,7 μM – played an irreplaceable role in the recognition of cobalamin E defect as a cause of the haematological and mild neurological abnormalities described in this boy.
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Abbreviations
- ADHD:
-
attention deficit hyperactivity disorder
- BHMT:
-
betaine-homocysteine methyltransferase
- Cbl:
-
cobalamin
- CBS:
-
cystathionine β-synthase
- Hb:
-
haemoglobin
- Hcy:
-
homocysteine
- EEG:
-
electroencephalogram
- Er:
-
erythrocyte
- Met:
-
methionine
- MRI:
-
magnetic resonance imaging
- MCV:
-
mean corpuscular volume
- MCH:
-
mean corpuscular haemoglobin
- MTRR:
-
methionine synthase reductase
- NV:
-
normal value
- THF:
-
tetrahydrofolate
- tHcy:
-
total homocysteine
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Acknowledgments
The authors thank Prof. Brian Fowler and his colleagues from the University Children’s Hospital of Basel for complementary analysis from patient’s fibroblasts, Prof. Viktor Kozich and his colleagues from Department of Paediatrics and Inherited Metabolic Disorders, Charles University First Faculty of Medicine and General University Hospital Prague for molecular genetic diagnostics, and parents and the patient for allowing to present this clinical case. Many thanks also to Prof. Martina Huemer from University Children’s Hospital Zurich for her valuable advice on the dose and frequency of 5 mg hydroxocobalamin administration.
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The study was conducted in accordance with the Declaration of Helsinki. Written informed consents were obtained from parents and presented patient during ambulant controls and during hospitalizations. The patient agrees to the publication of his anamnestic and laboratory data.
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Brennerová, K., Grešíková, M., Behúlová, D.S. et al. Importance of homocysteine determination in differential diagnosis of rare causes of macrocytic anaemia. Biologia 77, 1103–1108 (2022). https://doi.org/10.1007/s11756-021-01000-8
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DOI: https://doi.org/10.1007/s11756-021-01000-8