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- Title
The association of MMUT mutation (NM_000255.4:c.976A>G) with wide spectrum clinical manifestations in a child affected with methylmalonic acidemia.
- Authors
Pasha, Yadollah Zahed; Paniri, Alireza; Ahmadpour-Kacho, Mousa; Fattahi, Sadegh; Yazarlou, Nafiseh; Akhavan-Niaki, Haleh
- Abstract
Methylmalonic acidemia (MM A) is a rare autosomal recessive disorder caused by methylmalonyl CoAmutase (MMUT) deficiency which converts methylmalonyl-coenzyme A (CoA) to succinyl-CoA. Patients with MMA present a wide spectrum of clinical manifestations including lethargy, vomiting, hypotonia, seizure, acid-base disturbances, and tachycardia. Here, we report the case of a six-day-old infant suffering from poor feeding, acid-base imbalance, weak reflexes (grasping, sucking, and moro reflex), seizures, hypotonia, tachypnea, and tachycardia. Results obtained from whole exome sequencing (WES) for the proband identified a homozygous mutation in MMUT (NM_000255.4:c.976A>G (p.Arg326Gly)). The mutation was confirmed in both parents by Sanger sequencing. Biochemical analysis demonstrated significantly increased levels of methylmalonic acid and 3-hydroxypropionic acid excretions as well as elevated levels of glycine, tyrosine, lysine, and decreased levels of methionine in serum (elevated propinylcarnitine). Both his non-consanguineous parents were identified to be heterozygous for this mutation.
- Subjects
NEWBORN screening; ANTICONVULSANTS; GENETIC mutation; TACHYPNEA; AMINO acid metabolism disorders; TREATMENT effectiveness; ACID-base imbalances; METABOLIC disorders; TACHYCARDIA; SEIZURES (Medicine); DIETARY proteins; SYMPTOMS
- Publication
New Zealand Journal of Medical Laboratory Science, 2023, Vol 77, Issue 2, p75
- ISSN
1171-0195
- Publication type
Article