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Summary
ALLAN-HERNDON-DUDLEY SYNDROME AHDS
MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY
300523
OMIM = Online Medalian Inheritance of Men
95
Xq13.2
rare
X-linked
mutation in the MCT8 gene (SLC16A2)
symptoms
ataxia
contractures, joints
defect of walking, running, rising or climbing
developmental delay
dysarthria
eye movements, abnormal
feeding difficulties, poor feeding
hyperreflexia
hypotonia
irritability
leukodystrophy
mental retardation
microcephaly (<2 SD for age)
muscle atrophy
nystagmus
onset, adolescent
onset, childhood
onset, infancy
onset, neonatal
psychomotor retardation
scoliosis
sex: male > female
spastic diplegia/quadriplegia/tetraplegia
laboratory finding
Thyroid-stimulating hormone (TSH) mU/lserum
Thyroxine (T4) -Ág/dlserum
Triiodothyronine (T3) ng/dlserum
Literature
Handler NS,et al.Porphyria cutanea tarda: an intriguing genetic disease and markerInt J Dermatol566e106-1072017
Handler NS,et al.Porphyria cutanea tarda: an intriguing genetic disease and markerInt J Dermatol566e106-1172017
Morimoto A,Nakazawa Y, Ishii EHemophagocytic lymphohistiocytosis: Pathogenesis, diagnosis, and managementPediatr Int589817-8252016
Liu LU,et al.Familial Porphyria Cutanea TardaGeneReviews-« Internet002016
Ramachandran S,et al.Recent advances in diagnostic and therapeutic guidelines for primary and secondary hemophagocytic lymphohistiocytosisBlood Cells Mol Dis64053-572017
Bardou-Jacquet E,Brissot PDiagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE)Hematol Oncol Clin North Am284625-6352014
Ramanujam VM,Anderson KEPorphyria Diagnostics-Part 1: A Brief Overview of the PorphyriasCurr Protoc Hum Genet8601-262015
Luo ZB,et al.Prognostic factors of early death in children with hemophagocytic lymphohistiocytosisCytokine97080-852017