SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (SPG9A)

Question 1

What is  SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (SPG9A)?

Accepted Answer

very rare

autosomal dominant

mutation in the ALDH18A1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 601162

Question 3

Which enzymes are involved?

Accepted Answer

Delta-1-pyrroline-5-carboxylate synthase

Disease	SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (SPG9A)
Synonym	CATARACTS WITH MOTOR NEURONOPATHY, SHORT STATURE, AND SKELETAL ABNORMALITIES
OMIM	601162 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Delta-1-pyrroline-5-carboxylate synthase
Gene locus	10q24.1
ICD
Summary	very rare autosomal dominant mutation in the ALDH18A1 gene
Laboratory findings	Arginine normal/dec (plasma) Citrulline normal/dec (plasma) Ornithine normal/dec (plasma) Proline normal/dec (plasma)
Symptoms	bone age, delayed cataract dysarthria gastroesophageal reflux hyperreflexia hypertonia, spasticity learning disability muscle weakness neuropathy nystagmus onset, adolescent short stature spastic paraplegia urinary urgency vomiting