Crohn's disease (CD) is a complex disorder resulting from the interaction of intestinal
microbiota with the host immune system in genetically susceptible individuals. The largest …

Acute intermittent porphyria results from hydroxymethylbilane synthase (HMBS) mutations
that markedly decrease HMBS enzymatic activity. This dominant disease is diagnosed when …

Abstract Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme
metabolism, typically presents in adulthood, most often in women in the reproductive age …

Dystonia is a movement disorder involving sustained muscle contractions and abnormal
posturing with a strong hereditary predisposition and without a distinct neuropathology. In …

Background Fabry Disease (FD), an X linked lysosomal storage disease due to pathogenic
α-galactosidase A (GLA) mutations, results in two major subtypes, the early-onset Type 1 …

Hereditary autosomal dominant myoclonus dystonia (MD) is a movement disorder
characterized by involuntary lightning jerks and dystonic movements and postures alleviated …

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are inborn errors of
heme biosynthesis with the same phenotype but resulting from autosomal recessive loss-of …

Myoclonus‐dystonia is a movement disorder associated with mutations in the ε‐sarcoglycan
gene (SGCE) in most families and in the DRD2 and DYT1 genes in two single families. In …

Myoclonus-dystonia (MD) is an autosomal dominant disorder characterized by myoclonic
and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 …

Abstract Myoclonus‐dystonia (M‐D) due to SGCE mutations is characterized by early onset
myoclonic jerks, often associated with dystonia. Penetrance is influenced by parental sex …