Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia.

Glutaric aciduria type 2 is a rare inborn disease of fatty acid metabolism. The clinical manifestation of this disease is heterogeneous and ranges from severe neonatal forms to mild late-onset forms. We present a case of a previously healthy 22-year-old woman with unexplainable hypoglycemia and encephalopathic hyperammonemia. Acylcarnitine profile and organic acids analysis were compatible with glutaric aciduria type 2. On suspicion of this disease, the patient started supplements with carnitine and riboflavin, along with hemodialysis with a complete recovery. The genetic test confirmed the diagnosis. Glutaric aciduria type 2 has no cure and the metabolic decompensation can be a severe event, but treatable and preventable, if this pathology gets recognized.

Hunter Syndrome: The Phenotype of a Rare Storage Disease.

Hunter syndrome is a rare lysosomal storage disorder with systemic involvement that occurs over time. Affected patients have coarse facial features, growth retardation with short stature, and skeletal deformities called dysostosis multiplex; joint stiffness, progressive mental retardation, and organomegaly are some of the clinical signs. It ranges from mild to severe manifestations and the distinction between them is related to neurological involvement. Cardiac and respiratory failure is commonly the cause of early death (before adulthood) for severe forms, but those with attenuated forms who have normal cognitive development can survive until late adulthood. Treatment with enzyme replacement therapy is available and can improve the prognosis of this disease. The authors present a case of a 36-year-old male with Hunter syndrome to show not only the clinical features typical of this multisystemic disease that should alert to a prompt investigation but also to remind that treatment must start as early as possible to reach the best outcome. Management of this disease is typically challenging and requires a multidisciplinary approach.

Niemann-Pick Type B: A Rare Cause of Interstitial Lung Disease.

Niemann-Pick disease (NPD) is a rare lysosomal storage disease (LSD) with multisystemic involvement. The disease is heterogeneous and classified into three subtypes: type A and B result from deficient acid sphingomyelinase activity and leads to the accumulation of sphingomyelin and type C is a genetically different disease resulting from defective intracellular trafficking of cholesterol with accumulation of glycosphingolipids. Type A is generally a neurodegenerative disease and is fatal in infancy. Type B is a less severe form characterized by pulmonary involvement, hepatosplenomegaly, hyperlipidemia and most patients live into adulthood. In type C, clinical presentation is dominated with neurological involvement. Pulmonary involvement occurs in all three types of Niemann-Pick but most frequently in type B. Clinical manifestations range from a lack of symptoms to respiratory failure, and respiratory symptoms are usually mild with recurrent cough, dyspnoea on exertion and recurrent respiratory infections. Interstitial lung disease (ILD) is the most prominent feature with slow progression, characterized by worsening pulmonary function tests. In recent years, enzyme replacement therapy has shown promising results in clinical trials, such as improvement in organomegaly and pulmonary involvement with the potential to improve patients' lives. We present three cases of NPD with pulmonary involvement, each exhibiting a different pattern of ILD and evaluate therapeutic options.