PMID- 37728847
OWN - NLM
STAT- MEDLINE
DCOM- 20240219
LR  - 20240219
IS  - 2240-2993 (Electronic)
IS  - 0300-9009 (Linking)
VI  - 124
IP  - 1
DP  - 2024 Feb
TI  - Clinical and laboratory findings and etiologies of genetic homocystinemia: a 
      single-center experience.
PG  - 213-222
LID - 10.1007/s13760-023-02356-1 [doi]
AB  - BACKGROUND: Homocysteine (Hcy) is an endogenous nonprotein sulfur-containing 
      amino acid biosynthesized from methionine by the removal of its terminal methyl 
      group. Hyperhomocysteinemia (HHcy) has been linked to many systemic disorders, 
      including stroke, proteinuria, epilepsy, psychosis, diabetes, lung disease, and 
      liver disease. The clinical effects of high serum Hcy level, also known as 
      hyperhomocysteinemia, have been explained by different mechanisms. However, 
      little has been reported on the clinical and laboratory findings and etiologies 
      of genetic HHcy in children. This study aimed to examine the relationships 
      between clinical features, laboratory findings, and genetic defects of HHcy. 
      METHODS: We retrospectively evaluated 20 consecutive children and adolescents 
      with inherited HHcy at the pediatric neurology division of Baskent University, 
      Adana Hospital (Adana, Turkey) between December 2011 and December 2022. RESULTS: 
      Our main finding is that the most common cause of genetic HHcy is MTHFR mutation. 
      The other main finding is that the Hcy level was higher in patients with CBS 
      deficiency and intracellular cbl defects than in MTHFR mutations. We also found 
      that clinical presentations of genetic HHcy vary widely, and the most common 
      clinical finding is seizures. Here, we report the first and only case of a cbl 
      defect with nonepileptic myoclonus. We also observed that mild and intermediate 
      HHcy associated with the MTHFR mutation may be related to migraine, vertigo, 
      tension-type headache, and idiopathic intracranial hypertension. Although some of 
      the patients were followed up in tertiary care centers for a long time, they were 
      not diagnosed with HHcy. Therefore, we suggest evaluating Hcy levels in children 
      with unexplained neurological symptoms. CONCLUSIONS: Our findings suggest that 
      genetic HHcy might be associated with different clinical manifestations and 
      etiologies. Therefore, we suggest evaluating Hcy levels in children with 
      unexplained neurologic symptoms.
CI  - (c) 2023. The Author(s) under exclusive licence to Belgian Neurological Society.
FAU - Besen, Seyda
AU  - Besen S
AUID- ORCID: 0000-0002-6276-8133
AD  - Division of Neurology, Faculty of Medicine, Adana Dr. Turgut Noyan Teaching and 
      Medical Research Center, Baskent University, Adana, Turkey.
FAU - Ozkale, Yasemin
AU  - Ozkale Y
AUID- ORCID: 0000-0003-3009-336X
AD  - Division of Pediatrics, Faculty of Medicine, Adana Teaching and Medical Research 
      Center, Baskent University, BarajYolu 1 Durak, Seyhan, 01120, Adana, Turkey. 
      dryaseminozkale@gmail.com.
FAU - Ceylaner, Serdar
AU  - Ceylaner S
AUID- ORCID: 0000-0002-2053-9076
AD  - Clinical Genetics Unit, Intergen Genetics and Rare Diseases Research and 
      Application Center, Ankara, Turkey.
FAU - Noyan, Aytul
AU  - Noyan A
AUID- ORCID: 0000-0003-3500-9577
AD  - Division of Nephrology, Faculty of Medicine, Adana Dr. Turgut Noyan Teaching and 
      Medical Research Center, Baskent University, Adana, Turkey.
FAU - Erol, Ilknur
AU  - Erol I
AUID- ORCID: 0000-0002-3530-0463
AD  - Division of Neurology, Faculty of Medicine, Adana Dr. Turgut Noyan Teaching and 
      Medical Research Center, Baskent University, Adana, Turkey.
LA  - eng
PT  - Journal Article
DEP - 20230920
PL  - Italy
TA  - Acta Neurol Belg
JT  - Acta neurologica Belgica
JID - 0247035
RN  - 0 (Amino Acids)
RN  - Homocysteinemia
SB  - IM
MH  - Child
MH  - Humans
MH  - Adolescent
MH  - *Hyperhomocysteinemia/genetics/metabolism
MH  - Retrospective Studies
MH  - *Stroke
MH  - Amino Acids
OTO - NOTNLM
OT  - Children
OT  - Hyperhomocysteinemia
OT  - Neurologic symptoms
EDAT- 2023/09/20 12:52
MHDA- 2024/02/19 06:42
CRDT- 2023/09/20 11:31
PHST- 2023/05/03 00:00 [received]
PHST- 2023/07/31 00:00 [accepted]
PHST- 2024/02/19 06:42 [medline]
PHST- 2023/09/20 12:52 [pubmed]
PHST- 2023/09/20 11:31 [entrez]
AID - 10.1007/s13760-023-02356-1 [pii]
AID - 10.1007/s13760-023-02356-1 [doi]
PST - ppublish
SO  - Acta Neurol Belg. 2024 Feb;124(1):213-222. doi: 10.1007/s13760-023-02356-1. Epub 
      2023 Sep 20.