Dear doctor,
Andrea, my son, is affected by Propionic Acidemia.
Below we present a summary of Andrea's symptoms during all his life.
Please, if possible, return us your comments. Tanks
Marcello Poli ===== > marcello.poli at tin.it
N date Age Episody/Fact
1 June 08 1998 0 Andrea was born in Careggi (Florence-Italy) Hospital:
weight=3.3Kg, height=49 cm, cranic circumference=36.5 cm.
2 June 09 1998 1 day Weight Lowering. Seeming hypotonia. I remarked these
symptoms to Nursery Pediatrician. He answered "All is OK".
3 June 10 1998 up October
1998 Up 4 months Andrea is well. Normal/high feeding. Completely feeded by
mother's milk. Plurivit (brand of B Vitamins) every days.
4 November
1998 6 months Andrea is well. Normal/high feeding. Andrea's feeding was
mother's milk and grated apples with biscuits. Weight=8.8 Kg, height=71 cm.
5 December
1998 7 months Andrea is well. Normal/high feeding. Andrea's feeding was
mother's milk, grated apples with biscuits, meat and soup+ cheese.
Reddering of the cheeks with little desquamation. Plurivit (brand of B
Vitamins) every days.
6 February
1999 9 months Andrea is well. Normal/high feeding. Fever for two days at
37.5 °C maximum. Andrea's feeding was mother's milk, grated apples with
biscuits and meat.
Reddering of the cheeks with little desquamation decreases with reducing
Parmesan cheese into .the soup. . Plurivit (brand of B Vitamins) once every
two days. Weight=10 Kg.
7 April
1999 10 months Andrea is well. Normal/high feeding.
Neurologist diagnosed a modest psycomotor retardation with suitable games
and stimulation as possible therapy.
8 May 10 1999 11 months Fever for one day up to 38 °C as maximum.
9 May 11 1999 11 months No Fever
10 May 12 1999 11 months Fever for two days up to 39.2 °C as maximum. Few
seconds of convulsions when the fever was at its maximum value. Paracetamolo
sensitivity fever.
11 May 14 1999 11 months Normal values in urine analysis. In particular
negative ketoacids.
12 16 to 30 May 1999 11 months High hypotonia.
13 June 1
1999 11 months Admission to pediatric Hospital "Anna Meyer" of Florence.
Four hours diagnosis of propionic acidemia by Prof. Zammarchi's equipe.
Ammonium up to 216. Weight=10 Kg.
Diagnostical analysis have been performed: heart eco color doppler, ecg.,
several times blood + urine.
Aprotein diet+ Biotina 5mg +1/2 tablet of Flagyl (metronidazol).
14 June 2
1999 11 months Diagnostical analysis have been performed: RX, eeg., several
times blood + urine.
Human milk (70ml x 5)
Glucose 33% 250 ml
Glucose 10% 50 ml
Physiologycal sol. 300 ml
K phleboclysis 15 ml
Intralifol 20% 250ml
Total about 800 cal. Speed 37 ml/h
In the late evening: Ammonium= 94; Na=142, K=2.5; Cl=104.
15 June 3
1999 11 months Diagnostical analysis have been performed: several time blood
+ urine.
Ammonium= 88; Ph=7.38; Hco3=20.6; Beecf=-4.6
Stop to phleboclysis. Diet: Human milk, aproteic pasta with carrot or apple
mix
Andrea is well
16 June 4
1999 11 months Andrea is well
Diagnostical analysis have been performed: Magnetic resonance, blood +
urine.
In the morning Ammonium= 56
Note: to execute the Magnetic resonance the child is passed from about 27°C
to 15°C of the diagnostical room for about 1 hour without dresses.
17 June 5
1999
Saturday 11 months In the morning Andrea is well.
He refusals lunch. In the afternoon he begins a strange sleep. We alert the
doctor guard . At the 5 p.m. he performs an abdominal eco. Continue the
strange sleep.
The phleboclysis alimentation restarts.
AT 10 p.m. andrea takes 80 ml of human milk.
At 11 p.m. the child is poorly reactive. He doesn't react to dolorous
stimulus.
Temperature= 37.2 °C, Cardiac frequency =180 per min, respiratory
frequency=30 per min,=2 sat=90%.
Urine Stick Ketones negative, Glucose ++, Glicemie=336.
Insuline 0.1U/Kg/h.
18 June 6
1999
Sunday 11 months AT 2 a.m. Andrea sleep + convulsions.Cardiac frequency =160
per min
Ammonium=35.
Andrea is carried to the reanimation room.
AT 12 a.m. Andrea goes out the reanimation room. He sleeps.
Alimentation : the same of the 2 of June.
Temperature at 6 p.m. = 38.6 °C.
19 From 7 to8 of June 12 months Andrea sleeps.
Temperature up to 39.8°C. without any convulsions.
Paracetamol sensitivity fever.
Diagnosis: fever due to a virus .
Ammonium from 29 up to 84 µg/dL.
20 From 9 to 15 of June 12 months Fever temperature drops down to normal
values.
The human milk (500 cc) by probe starts .
Hypotonia.
Andrea does not recognize his parents.
He does not play.
We are afraid of Andrea cannot see.
Andrea does not hook up the look
The kind of virus is searched without success.
21 From 16 to 28 of June 12 months The human milk (500 cc) by probe
continues up to about 26 of June .
Andrea is better every day.
22 29 of June 12 months We leave the Hospital
23 July 5
1999 12 months First check. Ammonium = 46.
Andrea is better every day.
Carnitina =3.6 g per day
Flagyl (metronidazol)= 125 mg per day
Biotina =10 mg per day
24 Up to October 1999 Ammonium < 80.
Andrea is better every day.
Carnitina =3.6 g per day
Flagyl (metronidazol)= 125 mg per day
Biotina =10 mg per day
Andrea eats with appetite excepted when the teeth cut.
