Mucopolysaccharidosis Type I in Mexico: Case-Based Review.

Introduction: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease present in 1:100,000 newborns. Variants in the IDUA (alpha-L-iduronidase) gene decrease the enzyme activity for glycosaminoglycans metabolism. MPS I patients exhibit clinical manifestations that fall on the Hurler, Hurler-Scheie, and Scheie syndrome spectrum.

Critical CHD screening programme: a 3-year multicentre experience in Mexico.

Introduction: CHDs are the most common type of birth defect. One in four newborns with a heart defect has a critical CHD. In Mexico, there is a lack of data available to determine its prevalence.

Early detection of and intervention for two newborns with critical congenital heart disease using a specialized device as part of a screening system.

Screening for critical congenital heart disease is a clinical method used for their early detection using pulse oximetry technology. This, followed by a diagnostic confirmatory protocol, allows timely therapeutic interventions that improve the newborn's outcome. According to Mexican birth statistics, approximately 18,000-21,000 neonates are born with a form of congenital heart disease each year, of which 25% are estimated to be critical congenital heart disease.

Clinical Characterization of 2 Siblings with a Homozygous SPAST Variant.

BACKGROUND Hereditary spastic paraplegia (HSP or SPG) consists of a heterogeneous group of disorders, clinically divided into pure and complex forms. The former is characterized by neurological impairment limited to lower-extremity spasticity. The latter presents additional symptoms such as seizures, psychomotor impairment, cataract, deafness, and peripheral neuropathy.

Hawkinsinuria clinical practice guidelines: a Mexican case report and literature review.

Hawkinsinuria is an autosomal dominant disorder of tyrosine metabolism. Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene () result in an altered HPD enzyme, causing hawkinsin and tyrosine accumulation. Persistent metabolic acidosis and failure to thrive are common features in patients with hawkinsinuria.