ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

Question 1

What is  ALLAN-HERNDON-DUDLEY SYNDROME; AHDS?

Accepted Answer

rare
X-linked
mutation in the MCT8 gene (SLC16A2)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hereditäre Ataxie; ALLAN-HERNDON-DUDLEY-SYNDROM (AHDS)

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300523

Question 4

Which enzymes are involved?

Accepted Answer

Monocarboxylate transporter 8

Disease	ALLAN-HERNDON-DUDLEY SYNDROME; AHDS
Synonym	MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY
OMIM	300523 OMIM = Online Mendelian Inheritance of Men
Orphanet	59
Protein (UniProt)	Monocarboxylate transporter 8
Gene locus	Xq13.2
ICD	G31.8
Summary	rare X-linked mutation in the MCT8 gene (SLC16A2)
Laboratory findings	Thyroid-stimulating hormone (TSH) normal/inc (serum) Thyroxine (T4) dec (serum) Triiodothyronine (T3) inc (serum)
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