HYPERLYSINEMIA I, FAMILIAL

Question 1

What is  HYPERLYSINEMIA I, FAMILIAL?

Accepted Answer

rare
autosomal recessive
mutation in the alpha-aminoadipic semialdehyde synthase gene
2 variants:
- hyperlysinemia I (MIM 238700)
- hyperlysinemia II or saccharopinuria (MIM 268700)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperlysinämie Typ I; Lysin-alpha-Ketoglutarat-Reduktase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 238700

Question 4

Which enzymes are involved?

Accepted Answer

alpha-aminoadipic semialdehyde synthase, mitochondrial

Disease	HYPERLYSINEMIA I, FAMILIAL
Synonym	SACHAROPINURIA, LYSINEMIA FAMILIAL
OMIM	238700 OMIM = Online Mendelian Inheritance of Men
Orphanet	2203
Protein (UniProt)	alpha-aminoadipic semialdehyde synthase, mitochondrial
Gene locus	7q31.32
ICD	E72.3
Summary	rare autosomal recessive mutation in the alpha-aminoadipic semialdehyde synthase gene 2 variants: - hyperlysinemia I (MIM 238700) - hyperlysinemia II or saccharopinuria (MIM 268700)
Laboratory findings	L-Lysine inc (urine) L-Lysine inc (plasma) Lysine ketoglutarate reductase dec (fibroblasts) Ornithine inc (urine) Pipecolic acid inc (plasma) Saccharopine inc (urine) Saccharopine dehydrogenase dec (liver)
Symptoms	Amino acids, plasma Amino acids, urine behavior, hyperactive, restless cognitive impairment dislocated lens (ectopia lentis) growth retardation, poor growth hypertonia, spasticity hypotonia mental retardation no clinical symptoms (probably) onset, infancy seizures speech difficulties