THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2

Question 1

What is  THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2?

Accepted Answer

rare
autosomal recessive
mutation in the SLC19A3 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Enzephalopathie, Thiamin-responsive

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607483

Question 4

Which enzymes are involved?

Accepted Answer

Thiamine transporter 2

Disease	THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2
Synonym	ENCEPHALOPATHY, THIAMINE-RESPONSIVE, BTBGD; SLC19A3
OMIM	607483 OMIM = Online Mendelian Inheritance of Men
Orphanet	65284
Protein (UniProt)	Thiamine transporter 2
Gene locus	2q36.3
ICD	G93.8
Summary	rare autosomal recessive mutation in the SLC19A3 gene
Laboratory findings	2,4-Dihydroxybutyric acid normal/inc (urine) Sedoheptulose-7-phosphate normal/inc (urine) 2-Hydroxyisovaleric acid inc (urine) L-Lactic acid normal/inc (plasma)
Symptoms	lactic acidosis nystagmus ophthalmoplegia basal ganglia, changes, lesions, calcifications (MRI, CT) ataxia dystonia Encephalopathic crisis, acute encephalopathy epilepsy hypertonia, spasticity MRI, brain, abnormalities [-] Parkinsonism seizures coma defect of walking, running, rising or climbing dysarthria dysphagia hypotonia irritability MRS, brain, abnormalities onset, adolescent onset, childhood onset, infancy onset, neonatal onset, variable age psychomotor retardation ptosis (drooping eyelid) swallowing difficulties weight loss