Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey.

Background: Cerebral organic acid disorders are progressive neurometabolic diseases characterized by neurologic dysfunction. Glutaric aciduria type I (GA-I) and L-2-hydroxyglutaric aciduria (L2HGA) are the main cerebral organic acid disorders. They are both classified as, and it is suggested that these two disorders may share a common metabolic pathway.

Rare cause of ketolysis: Monocarboxylate transporter 1 deficiency.

Background: Monocarboxylate transporter 1 (MCT1) deficiency (MIM #616095) is a relatively new identified cause of recurrent ketoacidosis triggered by fasting or infections. MCT1 was first described in 2014 by van Hasselt et al. to result from both homozygous and heterozygous mutations in the SLC16A1 gene.

Severe antenatal intraventricular hemorrhage in a newborn with WASP pathogenic variant.

Wiskott-Aldrich syndrome (WAS) is a rare X-linked immunodeficiency disorder caused by abnormal expression of the Wiskott-Aldrich syndrome protein due to WAS gene mutation, usually characterized by microthrombocytopenia, eczema, hematological malignancies, recurrent infections, and a high risk of autoimmune complications. In this report, we present a family presenting with severe intrauterine cranial hemorrhage. The family has novel c.