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Hydrocephalus in cblC type methylmalonic acidemia.

Kaihui Zhang1, Min Gao1, Guangyu Wang2

  • 1Pediatric Research Institute, Qilu Children's Hospital of Shandong University, 23976 Jingshi Road, Jinan, 250022, Shandong, China.

Metabolic Brain Disease
|December 20, 2018
PubMed
Summary

Methylmalonic acidemia (MMA) can lead to hydrocephalus (HC), a rare but serious complication. Early screening for inherited metabolic diseases is crucial in children with progressive HC to ensure timely diagnosis and treatment of MMA.

Keywords:
HydrocephalusMMACHCMUTMethylmalonic academiacblC type

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Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics
  • Neurology

Background:

  • Methylmalonic acidemia (MMA) is an organic acidemia resulting from defects in methylmalonyl-CoA mutase or adenosyl-cobalamin synthesis.
  • Hydrocephalus (HC), characterized by enlarged ventricles and increased intracranial pressure due to cerebrospinal fluid imbalance, is a critical condition.
  • HC is rarely reported in MMA patients, and untreated MMA can cause brain damage.

Purpose of the Study:

  • To investigate the occurrence and characteristics of hydrocephalus in children diagnosed with methylmalonic acidemia.
  • To highlight the importance of early metabolic screening in cases of unexplained progressive hydrocephalus.

Main Methods:

  • Screening of 9117 high-risk children for organic acidurias using gas chromatography-mass spectrometry (GC/MS) and amino acid analysis via liquid chromatography-tandem mass spectrometry (LC-MS/MS).
  • Diagnosis of 10 cases with concurrent MMA and HC confirmed by brain MRI/CT and genetic mutation testing (high-throughput or Sanger sequencing).
  • Analysis of homocysteine levels in patients with MMA and HC.

Main Results:

  • Identified 10 cases of MMA with HC among 147 MMA patients screened.
  • Nine of the 10 patients had mutations in the MMACHC gene (cblC type), and one had a MUT mutation.
  • The mutation c.609G>A in MMACHC was prevalent in cblC type patients; none of the 10 patients were diagnosed before HC onset.

Conclusions:

  • Hydrocephalus is a rare but significant complication of methylmalonic acidemia, particularly the cblC type.
  • Early diagnosis of MMA is often missed, as evidenced by all 10 patients developing HC before diagnosis.
  • Urgent screening for inherited metabolic diseases, including MMA, is recommended for children presenting with progressive and refractory hydrocephalus.