MYOADENYLATE DEAMINASE DEFICIENCY (AMPDA)

Question 1

What is  MYOADENYLATE DEAMINASE DEFICIENCY (AMPDA)?

Accepted Answer

not rare (prevalence 1-2%)
autosomal recessive
mutation in the AMPD1 gene
may be asymptomatic or associated with exercised related cramps and myalgias and theses symptoms may be secondary due to neuromuscular or rheumatological diseases

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Adenosinmonophosphat-Desaminase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615511

Question 4

Which enzymes are involved?

Accepted Answer

AMP deaminase 1

Disease	MYOADENYLATE DEAMINASE DEFICIENCY (AMPDA)
Synonym	MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO; MYOPATHY-METABOLIC, MYOADENYLATE DEAMINASE DEFICIENCY
OMIM	615511 OMIM = Online Mendelian Inheritance of Men
Orphanet	45
Protein (UniProt)	AMP deaminase 1
ExPASy	3.5.4.6
Gene locus	1p13.2
ICD	G71.3
Summary	not rare (prevalence 1-2%) autosomal recessive mutation in the AMPD1 gene may be asymptomatic or associated with exercised related cramps and myalgias and theses symptoms may be secondary due to neuromuscular or rheumatological diseases
Laboratory findings	AMP-deaminase dec (muscle) Creatine kinase inc (serum) Myoglobin inc (urine)
Symptoms	brown colored urine EMG abnormalities [-] exercise intolerance hypotonia muscle cramps muscle weakness no clinical symptoms (probably) onset, adolescent onset, adulthood onset, childhood pain, muscle rhabdomyolysis urine color, abnormal