HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES; HGCLAS

Question 1

What is  HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES; HGCLAS?

Accepted Answer

very rare
autosomal recessive
mutation in the LIAS gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Liponsäure-Synthase-Mangel; Hyperglyzinämie, Laktatazidose, Krampfanfälle; HGCLAS

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614462

Question 4

Which enzymes are involved?

Accepted Answer

Lipoyl synthase, mitochondrial

Disease	HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES; HGCLAS
Synonym	PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD
OMIM	614462 OMIM = Online Mendelian Inheritance of Men
Orphanet	401859
Protein (UniProt)	Lipoyl synthase, mitochondrial
Gene locus	4p14
ICD	E88.8
Summary	very rare autosomal recessive mutation in the LIAS gene
Laboratory findings	Glutaric acid inc (urine) Glycine inc (urine) Glycine inc (plasma) L-Lactic acid inc (plasma)
Symptoms	apnea cardiomyopathy cardiomyopathy, hypertrophic cerebral atrophy early death encephalopathy epilepsy failure to thrive feeding difficulties, poor feeding hypotonia lactic acidosis lethargy, drowsiness, apathy leukodystrophy microcephaly (<2 SD for age) MRI, brain, abnormalities [-] myoclonus onset, neonatal psychomotor retardation pulmonary hypertension respiratory insufficiency seizures