Disease Group

Disorder

Signs and Symptoms

Patient Management

Result

Metabolic

Maple Syrup Urine Disease

Characterized by poor feeding, lethargy, vomiting, a maple syrup odor in the cerumen and urine, encephalopathy and central respiratory failure if untreated.

Dietary therapy to reduce toxic metabolites and achieve plasma concentrations of missing amino acids.

Asymptomatic normal life

Immunodeficiency

Severe Combined Immunodeficiency (SCID)

Presentation due to recurrent, increasingly severe infections with opportunistic organisms and failure to thrive.

Protective measures of prophylaxis with antibiotics, antifungals, antivirals and antibody replacement

Reduce the incidence of infections, slowing the progression and improve prognosis.

Neurology

Wilson Disease

Patients presents with abdominal pain, jaundice, hepatosplenomegaly, ascites, upper gastrointestinal bleed and mental status changes.

Early initiation of copper chelation

Reduce accumulation of copper and prevent irreversible damage.

Pulmonology

Cystic Fibrosis

Newborns present with rectal prolapse, meconium ileus, respiratory infections, pancreatic insufficiency, failure to thrive among other symptoms

Early initiation of pulmonary therapy, nutritional therapy, antibiotic prophylaxis, vaccination, bronchodilators

Decrease the incidence of infections, maintain pulmonary function. Reduce progression and improve prognosis

Endocrinology

Congenital hypothyroidism

Most infants are asymptomatic, those with symptoms typically present with lethargy, hoarse cry, feeding problems, constipation, myxoedema, macroglossia, among others.

Early initiation of thyroid hormone replacement (oral levothyroxine)

Prevent the development of impaired neurocognitive outcome, measured by intelligence quotient (IQ)

ENT

Hereditary Hearing Loss*

Infants will most likely remain asymptomatic until early childhood where the patient will have trouble understanding words, hearing consonants, avoidance of social setting etc

Early initiation of hearing aids, speech therapy and language therapy

Prevent developmental and speech delay

Hemoglobinopathies

Sickle cell anemia

Newborns can present with severe anemia, vaso-occlusive crisis, chronic abdominal pain, hyposplenism and infections.

Early initiation of primary prevention of acute complications, as well as hematopoietic stem cell transplantation

Prevent recurrent acute vaso-occlusive episodes and with successful hematopoietic stem cell transplantation achieve a normal asymptomatic life

Neuromuscular

Spinal Muscular Atrophy

Characterized by diffuse symmetric proximal muscle weakness greater in lower than upper extremities with absent or markedly decreased deep tendon reflexes.

Early initiation of disease-modifying therapy and supportive therapy

Improve quality of life and increase survival of affected individuals