Multiple Sulfatase Deficiency

Summarized by Plex Health
Last Updated: 02 May 2022

Multiple sulfatase deficiency is ultra-rare congenital disease in which all of the known sulfatase enzymes are unable to be totally triggered by formylglycine-generating enzyme, which is encoded by the SUMF1 gene. The skin of children affected by MSD can be flaky and usually dry due to the fact that of deficient activation of steroid sulfatase. The systemic symptoms can be variable since MSD is the result of a variable degree of deficiency across all human sulfatases. Metabolic acidosis-buildup of acid in body; Growth hold-ups. Feeding problems; Gingival hyperplasia; Dental abnormalities and risk for dental cavities; Oral, pharyngeal and top respiratory tract obstruction with progressive narrowing of air passage; Airway obstruction; Abnormal tracheal structure; Micrognathia or retrognathia; Progressive problem with bite, teeth, and enamel. Global developing hold-up or regression in all reported cases; Epilepsy/ seizures; Peripheral neuropathy; Neuropathic pain. Skeletal problems can consist of abnormal side-to-side curvature of the spine, joint rigidity, and dysostosis manifold, which describes a specific pattern of skeletal irregularities seen on x-ray. Much of the symptoms and signs of neonatal multiple sulfatase deficiency intensify with time. Affected individuals have normal early cognitive development however then experience psychomotor regression; nonetheless, the regression in the adolescent type usually takes place at a slower rate than in the late-infantile type. The signs and symptoms of this problem differ widely, prompting scientists to separate it into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with symptoms developing quickly after birth. The late-infantile type is the most common form and usually provides as progressive loss of mental abilities and movement after a period of normal growth. Life expectancy is shortened in all types. Multiple sulfatase deficiency is brought on by mutations in the SUMF1 genetics.

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