AMISH LETHAL MICROCEPHALY; THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)

Question 1

What is  AMISH LETHAL MICROCEPHALY; THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)?

Accepted Answer

very rare, 1 in 480 among Old Order Amish
autosomal recessive
mutation in the SLC25A19 gene
all reported patients have been from the Pennsylvania Amish community

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mikrozephalie, letale, Typ Amish

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607196

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial thiamine pyrophosphate carrier

Disease	AMISH LETHAL MICROCEPHALY; THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE)
Synonym	THIAMINE METABOLISM DYSFUNCTION SYNDROME 3 (MICROCEPHALY TYPE); THMD3
OMIM	607196 OMIM = Online Mendelian Inheritance of Men
Orphanet	99742
Protein (UniProt)	Mitochondrial thiamine pyrophosphate carrier
Gene locus	17q25.1
ICD	Q02
Summary	very rare, 1 in 480 among Old Order Amish autosomal recessive mutation in the SLC25A19 gene all reported patients have been from the Pennsylvania Amish community
Laboratory findings	Sedoheptulose-7-phosphate inc (urine) L-Lactic acid inc (urine) L-Lactic acid inc (plasma)
Symptoms	contractures, joints early death hepatomegaly (large liver) hypotonia irritability lactic acidosis microcephaly (<2 SD for age) onset, neonatal psychomotor retardation small chin or micrognathia