HYPERLEUCINE-ISOLEUCINEMIA (BCAA)

Question 1

What is  HYPERLEUCINE-ISOLEUCINEMIA (BCAA)?

Accepted Answer

very rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperleuzinämie-Hyperisoleuzinämie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 238340

Question 4

Which enzymes are involved?

Accepted Answer

BCAA aminotransferase

Disease	HYPERLEUCINE-ISOLEUCINEMIA (BCAA)
OMIM	238340 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus
ICD	E71.1
Summary	very rare autosomal recessive
Laboratory findings	Arginine normal/inc (plasma) Glycine normal/inc (plasma) Ketone bodies (urine) inc (urine) L-Isoleucine inc (plasma) Leucine inc (plasma) Valine inc (plasma)
Symptoms	alopecia episodic course (clinical symptoms) failure to thrive feeding difficulties, poor feeding hair loss hearing defect, deafness ketosis, ketoacidosis mental retardation metabolic acidosis nystagmus onset, infancy psychomotor retardation retinal or macular degeneration seizures vomiting