JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

A Homozygous Splice Site Mutation in SLC25A42, Encoding the Mitochondrial Transporter of Coenzyme A, Causes Metabolic Crises and Epileptic Encephalopathy

Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency
Sialuria: Ninth Patient Described Has a Novel Mutation in GNE
Stability of the ABCD1 Protein with a Missense Mutation: A Novel Approach to Finding Therapeutic Compounds for X-Linked Adrenoleukodystrophy
Psychosocial Functioning in Parents of MPS III Patients
The Second Case of Saposin A Deficiency and Altered Autophagy
An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study
Demographics, Clinical Features, and Mortality of Acute Hepatic Porphyrias in Colombia: An Analysis of 101 Patients
Cobalamin D Deficiency Identified Through Newborn Screening
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties
DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients
Enzyme Replacement Therapy During Pregnancy in Fabry Patients
Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia
Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort
Reversible Cerebral White Matter Abnormalities in Homocystinuria.