Volume 20 Issue 4
Clinical and Biochemical Spectrum of Molybdenum Cofactor Deficiency Due To MOCS2 Mutations
Seema Thakur*, Shubhnita SinghKetki Vinod Kudalkar, Arndt Rolfs, Elham Kashani, Christian Beetz, Manish Parakh, Ravikumar Sowmya, Chinthalapalli Prakash Ravi Kumar, Anil Bansidhar JalanAbstract
Abstract
Background: Molybdenum cofactor deficiency (MoCD) is a neurometabolic disorder with presenting symptoms such as severe congenital microcephaly, severe global developmental delay, intractable seizure disorder, and spastic quadriplegia. Magnetic resonance imaging of the brain of patients with MoCD indicates brain atrophy, delayed myelination, and cystic leukomalacia.
Materials and Methods: We evaluated 3 patients with MoCD and their clinical, biochemical, and molecular findings. The results were compared with previously reported cases. One of these patients was prescribed a low-methionine diet, and the clinical and biochemical changes observed in this case are presented in this article.
Results: In all 3 patients with MoCD, uric acid and homocysteine levels were low, and sulfocysteine, urinary hypoxanthine, and xanthine levels were elevated. We also noticed homozygous mutations in the MOCS2 gene of these patients. Methionine-restricted diet in 1 patient with a milder mutation showed good clinical response with improvement in head control and reduced frequency of seizures. Biochemical investigations showed improvement in decreased sulfocysteine level in the plasma and urine along with disappearance of sulfites in the urine.
Conclusions: Clinicians should suspect MoCD in any newborn or neonate presenting with severe congenital microcephaly, followed by severe epileptic encephalopathy and global developmental delay. Our case study shows that instituting dietary therapy early in life might be useful in improving the outcomes, at least in cases of milder forms of MOCS2 deficiency.
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