THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5; TPK

Question 1

What is  THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5; TPK?

Accepted Answer

very rare
autosomal recessive
mutation in the TPK1 gene
Leigh-like disease

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Enzephalopathie der Kindheit durch Thiamin-Pyrophosphokinase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614458

Question 4

Which enzymes are involved?

Accepted Answer

Thiamin pyrophosphokinase 1

Disease	THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5; TPK
Synonym	THIAMINE PYROPHOSPHOKINASE DEFICIENCY
OMIM	614458 OMIM = Online Mendelian Inheritance of Men
Orphanet	293955
Protein (UniProt)	Thiamin pyrophosphokinase 1
ExPASy	2.7.6.2
Gene locus	7q35
ICD
Summary	very rare autosomal recessive mutation in the TPK1 gene Leigh-like disease
Laboratory findings	Thiamine, Vitamin B1 inc (serum) 2-Oxoglutaric acid normal/inc (urine) 3-Hydroxyisovaleric acid normal/inc (urine) L-Lactic acid inc (plasma) L-Lactic acid inc (cerebrospinal fluid) Vitamin H inc (urine)
Symptoms	ataxia developmental delay dystonia encephalopathy gait disturbance hypotonia lactic acidosis lethargy, drowsiness, apathy MRI, brain, abnormalities [-] onset, childhood seizures speech development, delayed, abnormal