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Clinical characteristics and genotype analysis of five infants with cblX type of methylmalonic acidemia

Fei Wang1, Lili Liang2, Shiying Ling2

  • 11. Department of Endocrinology, Shanghai Children's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200062, China.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences
|October 8, 2022
PubMed

Insights

Cobalamin (cbl) X type methylmalonic acidemia (MMA) presents with severe neurological symptoms like epilepsy and developmental delay. Diagnosis requires combining clinical findings with genetic testing due to variable biochemical phenotypes.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Methylmalonic acidemia (MMA) comprises a group of inherited metabolic disorders.
  • Cobalamin (cbl) X type MMA is a rare subtype linked to the HCFC1 gene.

Purpose of the Study:

  • To investigate the clinical and genetic characteristics of infants diagnosed with cobalamin (cbl) X type methylmalonic acidemia (MMA).

Main Methods:

  • Clinical data from 5 infants with cblX MMA were collected.
  • Biochemical analyses included blood acylcarnitines and urinary organic acids.
  • Whole exon gene sequencing and bioinformatics analysis identified pathogenic mutations in the HCFC1 gene.

Main Results:

  • Four males and one female infant were diagnosed with cblX MMA, with onset between 0-6 months.
  • Clinical features included intractable epilepsy and mental/motor retardation.
  • Genetic analysis revealed known and novel mutations in the HCFC1 gene, with varying clinical and biochemical presentations.

Conclusions:

  • CblX MMA manifests with severe neurological symptoms and metabolic abnormalities, primarily elevated homocysteine.
  • Clinical and biochemical phenotypes can be discordant.
  • Genetic testing is crucial for accurate diagnosis of cblX MMA.
Abstract

Keywords:
Cobalamin X typeHomocysteineHost cell factor C1Methylmalonic acidemiaX-linked

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